Your browser doesn't support javascript.
loading
Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease.
Derksen, Alexa; Shih, Hung-Yu; Forget, Diane; Darbelli, Lama; Tran, Luan T; Poitras, Christian; Guerrero, Kether; Tharun, Sundaresan; Alkuraya, Fowzan S; Kurdi, Wesam I; Nguyen, Cam-Tu Emilie; Laberge, Anne-Marie; Si, Yue; Gauthier, Marie-Soleil; Bonkowsky, Joshua L; Coulombe, Benoit; Bernard, Geneviève.
Afiliação
  • Derksen A; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC H4A 3J1, Canada.
  • Shih HY; Translational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.
  • Forget D; Department of Neurology and Neurosurgery, McGill University, Montréal, QC H3A 0G4, Canada.
  • Darbelli L; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.
  • Tran LT; Translational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.
  • Poitras C; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC H4A 3J1, Canada.
  • Guerrero K; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC H4A 3J1, Canada.
  • Tharun S; Translational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.
  • Alkuraya FS; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC H4A 3J1, Canada.
  • Kurdi WI; Department of Biochemistry, Uniformed Services University of Health Sciences (USUHS), Bethesda, MD 20814, USA.
  • Nguyen CE; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 12713, Saudi Arabia.
  • Laberge AM; Department of Obstetrics and Gynecology, Maternal Fetal Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 12713, Saudi Arabia.
  • Si Y; Neurosciences Department, Université de Montréal, Montréal, QC H3T 1J4, Canada.
  • Gauthier MS; Service de Génétique Médical, CHU Sainte-Justine, Montréal, QC H3T 1C5, Canada.
  • Bonkowsky JL; GeneDx, Gaithersburg, MD 20877, USA.
  • Coulombe B; Translational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.
  • Bernard G; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.
HGG Adv ; 2(3): 100034, 2021 Jul 08.
Article em En | MEDLINE | ID: mdl-35047835
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2021 Tipo de documento: Article