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Acta Neuropathologica Communications|July 26, 2014
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephalyCatherine Fallet-Bianco, Annie Laquerrière, Karine Poirier, et al.
Orphanet Journal of Rare Diseases|May 3, 2015
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndromeMatthieu J Schlögel, Antonella Mendola, Elodie Fastré, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2023
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsyLydia von Wintzingerode, Bruria Ben-Zeev, Claudia Cesario, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assaysMarine Legendre, Montserrat Rodriguez-Ballesteros, Massimiliano Rossi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 14, 2009
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndromeRenata L L Ferreira de Lima, Sarah A Hoper, Michella Ghassibe, et al.
Nature Genetics|May 4, 2010
De novo mutations of SETBP1 cause Schinzel-Giedion syndromeAlexander Hoischen, Bregje W M van Bon, Christian Gilissen, et al.
American Journal of Human Genetics|February 8, 2011
FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafishMichella Ghassibe-Sabbagh, Laurence Desmyter, Tobias Langenberg, et al.
Clinical Genetics|April 9, 2026
Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion SyndromeAmber S E van Oirsouw, Tzung-Chien Hsieh, Martijn Koetsier, et al.
Journal of Clinical Immunology|March 9, 2016
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive SurveyTracy A Briggs, Gillian I Rice, Navid Adib, et al.
European Journal of Medical Genetics|February 19, 2014
Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challengesOlivier Vanakker, Catheline Vilain, Katrien Janssens, et al.
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