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Wyszukujesz frazę ""Hellebrekers DMEI"" wg kryterium: Autor


Wyświetlanie 1-10 z 10
Tytuł:
DTYMK is essential for genome integrity and neuronal survival.
Autorzy:
Vanoevelen JM; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 ER, Maastricht, The Netherlands. .; GROW-School for Oncology and Developmental Biology, 6229 ER, Maastricht, The Netherlands. .
Bierau J; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 ER, Maastricht, The Netherlands.
Grashorn JC; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 ER, Maastricht, The Netherlands.
Lambrichs E; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 ER, Maastricht, The Netherlands.
Kamsteeg EJ; Department of Human Genetics, Radboud UMC, 6525 GA, Nijmegen, The Netherlands.
Bok LA; Department of Pediatrics, Màxima Medical Center, 5504 DB, Veldhoven, The Netherlands.
Wevers RA; Translational Metabolic Laboratory, Radboud UMC, 6525 GA, Nijmegen, The Netherlands.
van der Knaap MS; Department of Child Neurology, VUMC, 1105 AZ, Amsterdam, The Netherlands.
Bugiani M; Department of Neuropathology, VUMC, 1105 AZ, Amsterdam, The Netherlands.
Frisk JH; Department of Anatomy, Physiology and Biochemistry, Swedish University of Agricultural Sciences, 75007, Uppsala, Sweden.
Colnaghi R; Genome Damage and Stability Centre, University of Sussex, Brighton, BN1 9RH, UK.
O'Driscoll M; Genome Damage and Stability Centre, University of Sussex, Brighton, BN1 9RH, UK.
Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 ER, Maastricht, The Netherlands.
Rodenburg R; Translational Metabolic Laboratory, Radboud UMC, 6525 GA, Nijmegen, The Netherlands.
Ferreira CR; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Brunner HG; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 ER, Maastricht, The Netherlands.; Department of Human Genetics, Radboud UMC, 6525 GA, Nijmegen, The Netherlands.; GROW-School for Oncology and Developmental Biology, 6229 ER, Maastricht, The Netherlands.; MHENS School of Neuroscience, 6229 ER, Maastricht, The Netherlands.; Donders Institute of Neuroscience, Radboud UMC, 6525 GA, Nijmegen, The Netherlands.
van den Wijngaard A; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 ER, Maastricht, The Netherlands.
Abdel-Salam GMH; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, 12311, Egypt.
Wang L; Department of Anatomy, Physiology and Biochemistry, Swedish University of Agricultural Sciences, 75007, Uppsala, Sweden.
Stumpel CTRM; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 ER, Maastricht, The Netherlands. .
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Źródło:
Acta neuropathologica [Acta Neuropathol] 2022 Feb; Vol. 143 (2), pp. 245-262. Date of Electronic Publication: 2021 Dec 17.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Neurodegenerative Diseases/*genetics
Nucleoside-Phosphate Kinase/*genetics
Animals ; Female ; Humans ; Male ; Microcephaly/genetics ; Mutation ; Zebrafish
Czasopismo naukowe
Tytuł:
Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions.
Autorzy:
Guo L; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands; Department of Toxicogenomics, Clinical Genomics Unit, Maastricht University, Maastricht, the Netherlands.
Govindaraj P; Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Neuromuscular Laboratory, Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Center for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad, India.
Kievit M; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands.
de Coo IFM; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands; Department of Toxicogenomics, Clinical Genomics Unit, Maastricht University, Maastricht, the Netherlands.
Gerards M; Maastricht Center for Systems Biology (MacsBio), Maastricht University, Maastricht, the Netherlands.
Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.
Stassen APM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.
Gayathri N; Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Neuromuscular Laboratory, Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
Taly AB; Neuromuscular Laboratory, Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
Sankaran BP; The Faculty of Medicine and Health, The Children's Hospital at Westmead Clinical School, Sydney Medical School, The University of Sydney, NSW, Australia.
Smeets HJM; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands; Department of Toxicogenomics, Clinical Genomics Unit, Maastricht University, Maastricht, the Netherlands; School for Oncology and Developmental Biology (GROW), Maastricht University, Maastricht, the Netherlands. Electronic address: .
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Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 Sep; Vol. 31 (9), pp. 859-864. Date of Electronic Publication: 2021 Jul 04.
Typ publikacji:
Case Reports; Research Support, Non-U.S. Gov't
MeSH Terms:
Whole Exome Sequencing*
Carrier Proteins/*genetics
Mitochondrial Proteins/*genetics
Ophthalmoplegia, Chronic Progressive External/*genetics
Adult ; DNA, Mitochondrial/genetics ; Female ; Homozygote ; Humans ; Mitochondria/genetics ; Mutation ; Sequence Deletion
Raport
Tytuł:
Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene.
Autorzy:
de Vries RJ; Department of Clinical Genetics, Amsterdam University Medical Center, location Academic Medical Center, Amsterdam, The Netherlands.
Jaeger B; Department of Neurology, Amsterdam University Medical Center, Academic Medical Center, Amsterdam, The Netherlands.
Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Center (MUMC), Maastricht, The Netherlands.
Reneman L; Department of Radiology, Amsterdam University Medical Center, Academic Medical Center, Amsterdam, The Netherlands.
Verhamme C; Department of Neurology, Amsterdam University Medical Center, Academic Medical Center, Amsterdam, The Netherlands.
Smeets HJM; Department of Clinical Genetics, Maastricht University Medical Center (MUMC), Maastricht, The Netherlands; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
van Maarle MC; Department of Clinical Genetics, Amsterdam University Medical Center, location Academic Medical Center, Amsterdam, The Netherlands.
de Visser M; Department of Neurology, Amsterdam University Medical Center, Academic Medical Center, Amsterdam, The Netherlands. Electronic address: .
Bleeker FE; Department of Clinical Genetics, Netherlands Cancer Institute, Amsterdam, The Netherlands.
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Źródło:
Clinical neurology and neurosurgery [Clin Neurol Neurosurg] 2021 Jul; Vol. 206, pp. 106637. Date of Electronic Publication: 2021 Apr 20.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Mitochondrial Proteins/*genetics
Muscle Weakness/*genetics
Neuroaxonal Dystrophies/*genetics
Neuroaxonal Dystrophies/*pathology
Optic Atrophies, Hereditary/*genetics
Peripheral Nervous System Diseases/*genetics
Adult ; Humans ; Male ; Mutation, Missense
Czasopismo naukowe
Tytuł:
Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report.
Autorzy:
Eleftheriadou M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
Medici-van den Herik E; Department of Neurology, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
Stuurman K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
van Bever Y; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.
van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
Ruijter G; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Feb; Vol. 9 (2), pp. e1595. Date of Electronic Publication: 2021 Jan 11.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Phenotype*
Acyl-CoA Dehydrogenase/*deficiency
Amino Acid Metabolism, Inborn Errors/*genetics
Autistic Disorder/*genetics
Oxidoreductases Acting on CH-CH Group Donors/*genetics
Acyl-CoA Dehydrogenase/genetics ; Amino Acid Metabolism, Inborn Errors/pathology ; Autistic Disorder/pathology ; Child ; Female ; Humans ; Mutation ; Whole Exome Sequencing
SCR Disease Name:
Isobutyryl-CoA dehydrogenase deficiency
Czasopismo naukowe
Tytuł:
A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Autorzy:
Verdonschot JAJ; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Department of Cardiology, Cardiovascular Research Institute (CARIM), Maastricht University Medical Center, Maastricht, The Netherlands.
Vanhoutte EK; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Claes GRF; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Helderman-van den Enden ATJM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Hoeijmakers JGJ; Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands.
Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
de Haan A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Christiaans I; Department of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, The Netherlands.; Department of Clinical Genetics, University Medical Centre Groningen, Groningen, The Netherlands.
Lekanne Deprez RH; Department of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, The Netherlands.
Boen HM; Department of Cardiology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
van Craenenbroeck EM; Department of Cardiology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
Loeys BL; Department of Medical Genetics, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
Hoedemaekers YM; Department of Clinical Genetics, University Medical Centre Groningen, Groningen, The Netherlands.; Department of Clinical Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
Marcelis C; Department of Clinical Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
Kempers M; Department of Clinical Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
Brusse E; Department of Neurology, Erasmus MC University Medical Centre, Rotterdam, The Netherlands.
van Waning JI; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Cardiology, Radboud University Medical Centre, Nijmegen, The Netherlands.
Baas AF; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Dooijes D; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Asselbergs FW; Department of Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands.
Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, The Netherlands.
Koopman P; Department of Cardiology, Heart Center Hasselt, Belgium.
van den Wijngaard A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Heymans SRB; Department of Cardiology, Cardiovascular Research Institute (CARIM), Maastricht University Medical Center, Maastricht, The Netherlands.; Department of Cardiovascular Sciences, Centre for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium.; The Netherlands Heart Institute, Utrecht, The Netherlands.
Krapels IPC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Brunner HG; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Department of Clinical Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.; Department of Genetics and Cell Biology, GROW Institute for Developmental Biology and Cancer, Maastricht University Medical Centre, Maastricht, The Netherlands.
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Źródło:
Human mutation [Hum Mutat] 2020 Jun; Vol. 41 (6), pp. 1091-1111. Date of Electronic Publication: 2020 Mar 20.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Cardiomyopathies/*genetics
Filamins/*genetics
Muscular Diseases/*genetics
Animals ; Arrhythmias, Cardiac/genetics ; Cardiomyopathy, Dilated/genetics ; Disease Models, Animal ; Genetic Association Studies ; Humans ; Mutation ; Myopathies, Structural, Congenital/genetics
Czasopismo naukowe
Tytuł:
A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.
Autorzy:
Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, the Netherlands. Electronic address: debby.hellebrekers@mumc.nl.
Blakely EL; Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Hendrickx ATM; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, the Netherlands.
Hardy SA; Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Hopton S; Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Falkous G; Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
de Coo IFM; Department of Neurology and Department of Pediatrics, Erasmus MC, Doctor Molewaterplein 40, 3015 GD Rotterdam, the Netherlands; Department of Genetics and Cell Biology, Maastricht University, PO Box 616, 6200 MD Maastricht, the Netherlands; Department of Neurology, Medical Spectrum Twente, Koningsplein 1, 7512 KZ Enschede, the Netherlands.
Smeets HJM; Department of Genetics and Cell Biology, Maastricht University, PO Box 616, 6200 MD Maastricht, the Netherlands; MHeNs School for Mental Health and Neuroscience, Maastricht University, PO Box 616, 6200 MD Maastricht, the Netherlands.
van der Beek NME; Department of Neurology and Department of Pediatrics, Erasmus MC, Doctor Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
Taylor RW; Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
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Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2019 Sep; Vol. 29 (9), pp. 693-697. Date of Electronic Publication: 2019 Aug 21.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA, Mitochondrial/*genetics
Muscle, Skeletal/*pathology
Ophthalmoplegia, Chronic Progressive External/*genetics
RNA, Transfer, Met/*genetics
Aged ; Electron Transport Complex IV/metabolism ; Female ; Humans ; Muscle, Skeletal/metabolism ; Mutation ; Severity of Illness Index
Czasopismo naukowe
Tytuł:
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Autorzy:
Theunissen TEJ; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.; Research Institute GROW, Maastricht University Medical Centre, Maastricht, Netherlands.
Nguyen M; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.; Research Institute GROW, Maastricht University Medical Centre, Maastricht, Netherlands.
Kamps R; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.
Hendrickx AT; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.
Sallevelt SCEH; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.
Gottschalk RWH; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.
Calis CM; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.
Stassen APM; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.
de Koning B; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.
Mulder-Den Hartog ENM; Department of Pediatric Neurology, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands.
Schoonderwoerd K; Department of Clinical Genetics, Erasmus MC, Rotterdam, Netherlands.
Fuchs SA; Department of Metabolic Disorders, University Medical Centre Utrecht, Utrecht, Netherlands.
Hilhorst-Hofstee Y; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands.
de Visser M; Department of Neurology, Academic Medical Centre Amsterdam, Amsterdam, Netherlands.
Vanoevelen J; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.
Szklarczyk R; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.; Research Institute GROW, Maastricht University Medical Centre, Maastricht, Netherlands.
Gerards M; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.; Maastricht Center for Systems Biology (MaCSBio), Maastricht University Medical Centre, Maastricht, Netherlands.
de Coo IFM; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.; Department of Pediatric Neurology, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands.
Hellebrekers DMEI; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.
Smeets HJM; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.; Research Institute GROW, Maastricht University Medical Centre, Maastricht, Netherlands.
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Źródło:
Frontiers in genetics [Front Genet] 2018 Oct 12; Vol. 9, pp. 400. Date of Electronic Publication: 2018 Oct 12 (Print Publication: 2018).
Typ publikacji:
Journal Article
Czasopismo naukowe
Tytuł:
Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect.
Autorzy:
Theunissen TEJ; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands.; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, Netherlands.
Gerards M; Maastricht Centre for Systems Biology, Maastricht University, Maastricht, Netherlands.
Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands.
van Tienen FH; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands.
Kamps R; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands.
Sallevelt SCEH; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands.
Hartog ENMM; Department of Neurology, Erasmus Medical Center, Rotterdam, Netherlands.
Scholte HR; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands.
Verdijk RM; Department of Pathology, Erasmus Medical Center, Rotterdam, Netherlands.
Schoonderwoerd K; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands.
de Coo IFM; Department of Neurology, Erasmus Medical Center, Rotterdam, Netherlands.
Szklarczyk R; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands.
Smeets HJM; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands.; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, Netherlands.; Maastricht Centre for Systems Biology, Maastricht University, Maastricht, Netherlands.
Pokaż więcej
Źródło:
Frontiers in molecular neuroscience [Front Mol Neurosci] 2017 Oct 18; Vol. 10, pp. 336. Date of Electronic Publication: 2017 Oct 18 (Print Publication: 2017).
Typ publikacji:
Journal Article
Czasopismo naukowe
Tytuł:
Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.
Autorzy:
Theunissen TEJ; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.
Sallevelt SCEH; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
de Koning B; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
Hendrickx ATM; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
van den Bosch BJC; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
Kamps R; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
Schoonderwoerd K; Department of Clinical Genetics, Erasmus Medical Centre (MC), Rotterdam, The Netherlands.
Szklarczyk R; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
Mulder-Den Hartog ENM; Department of Neurology, Erasmus MC, Rotterdam, The Netherlands.
de Coo IFM; Department of Neurology, Erasmus MC, Rotterdam, The Netherlands.
Smeets HJM; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands. Electronic address: .
Pokaż więcej
Źródło:
The Journal of pediatrics [J Pediatr] 2017 Mar; Vol. 182, pp. 371-374.e2. Date of Electronic Publication: 2017 Jan 09.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Congenital Abnormalities/*genetics
Genetic Diseases, Inborn/*diagnosis
Sequence Analysis, DNA/*methods
Amidohydrolases/genetics ; Carboxylic Ester Hydrolases/genetics ; Congenital Abnormalities/diagnosis ; Exome/genetics ; Genetic Testing/methods ; Genomics ; Genotype ; Humans ; Infant ; Membrane Proteins/genetics ; Microtubule-Associated Proteins ; Mutagenicity Tests ; Phenotype ; Receptors, Peptide/genetics ; Sensitivity and Specificity ; Severity of Illness Index
Czasopismo naukowe
    Wyświetlanie 1-10 z 10

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