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Wyszukujesz frazę ""Hendrickx ATM"" wg kryterium: Autor


Wyświetlanie 1-6 z 6
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: .
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 :
Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype.
Autorzy :
Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
Sallevelt SCEH; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
Theunissen TEJ; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
Hendrickx ATM; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
Gottschalk RW; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
Hoeijmakers JGJ; Department of Neurology, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
Habets DD; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
Bierau J; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
Schoonderwoerd KG; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
Smeets HJM; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2017 Jun; Vol. 25 (7), pp. 886-888. Date of Electronic Publication: 2017 Apr 26.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
INDEL Mutation*
Ataxia/*genetics
Dysarthria/*genetics
Membrane Transport Proteins/*genetics
Muscle Weakness/*genetics
Ataxia/diagnosis ; Ataxia/drug therapy ; Cells, Cultured ; Dysarthria/diagnosis ; Dysarthria/drug therapy ; Fibroblasts/metabolism ; Humans ; Male ; Middle Aged ; Muscle Weakness/diagnosis ; Muscle Weakness/drug therapy ; Phenotype ; Riboflavin/metabolism ; Riboflavin/therapeutic use ; Syndrome ; Vitamin B Complex/metabolism ; Vitamin B Complex/therapeutic use
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: .
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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 1-6 z 6

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