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Wyszukujesz frazę ""Mulder-den Hartog, Elvira N. M."" wg kryterium: Autor


Wyświetlanie 1-5 z 5
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.
Pokaż więcej
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 :
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
Tytuł :
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.
Autorzy :
Theunissen TE; 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.
Szklarczyk R; Department of Clinical Genetics, Maastricht University Medical Centre , Maastricht , Netherlands.
Gerards M; Maastricht Centre for Systems Biology (MaCSBio) , Maastricht , Netherlands.
Hellebrekers DM; Department of Clinical Genetics, Maastricht University Medical Centre , Maastricht , Netherlands.
Mulder-Den Hartog EN; Department of Neurology , Erasmus MC, Rotterdam , Netherlands.
Vanoevelen J; Department of Clinical Genetics, Maastricht University Medical Centre , Maastricht , Netherlands.
Kamps R; Department of Clinical Genetics, Maastricht University Medical Centre , Maastricht , Netherlands.
de Koning B; Department of Clinical Genetics, Maastricht University Medical Centre , Maastricht , Netherlands.
Rutledge SL; Department of Neurology and Genetics, University of Alabama at Birmingham , Birmingham, AL , USA.
Schmitt-Mechelke T; Department of Neuropediatrics, Luzerner Kantonsspital , Kinderspital, Luzern , Switzerland.
van Berkel CG; Department of Child Neurology, Neuroscience Campus Amsterdam, VU University Medical Center , Amsterdam , Netherlands.
van der Knaap MS; Department of Child Neurology, Neuroscience Campus Amsterdam, VU University Medical Center , Amsterdam , Netherlands.
de Coo IF; Department of Neurology , Erasmus MC, Rotterdam , Netherlands.
Smeets HJ; 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 (MaCSBio), Maastricht, Netherlands.
Pokaż więcej
Źródło :
Frontiers in neurology [Front Neurol] 2016 Nov 16; Vol. 7, pp. 203. Date of Electronic Publication: 2016 Nov 16 (Print Publication: 2016).
Typ publikacji :
Journal Article
Czasopismo naukowe
    Wyświetlanie 1-5 z 5

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