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European Journal of Human Genetics : EJHG|September 12, 2023
The reuse of genetic information in research and informed consentDavid Lorenzo, Montse Esquerda, Margarita Bofarull, et al.
Journal of the Peripheral Nervous System : JPNS|January 5, 2011
Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth diseaseRafael Sivera, Carmen Espinós, Juan J Vílchez, et al.
Cell Cycle (Georgetown, Tex.)|October 19, 2016
Dysfunctional mitochondrial fission impairs cell reprogrammingJavier Prieto, Marian León, Xavier Ponsoda, et al.
European Journal of Human Genetics : EJHG|February 11, 2010
The USH2A c.2299delG mutation: dating its common origin in a Southern European populationElena Aller, Lise Larrieu, Teresa Jaijo, et al.
Neurobiology of Disease|June 28, 2026
GDAP1 orchestrates redox signaling at membrane contact sites to preserve axonal integrity in Charcot-Marie-tooth diseaseLara Cantarero, Mònica Roldán, María Rodríguez-Sanz, et al.
European Journal of Human Genetics : EJHG|December 20, 2007
Provision and quality assurance of preimplantation genetic diagnosis in EuropeAnniek Corveleyn, Michael A Morris, Elisabeth Dequeker, et al.
American Journal of Medical Genetics. Part A|November 16, 2019
Okur-Chung neurodevelopmental syndrome in a patient from SpainAntonio F Martinez-Monseny, Dídac Casas-Alba, César Arjona, et al.
Human Mutation|September 4, 2018
Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlationsDídac Casas-Alba, Antonio Martínez-Monseny, Rosa M Pino-Ramírez, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition|December 18, 2025
Idiopathic neonatal arterial ischaemic stroke: a trio-based whole-exome sequencing studyJonathan Olival, Janet Hoenicka, Gemma Arca, et al.
Frontiers in Molecular Neuroscience|September 16, 2017
Reversible Axonal Dystrophy by Calcium Modulation in Frataxin-Deficient Sensory Neurons of YG8R MiceBelén Mollá, Diana C Muñoz-Lasso, Fátima Riveiro, et al.
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