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Annales De Genetique|January 1, 1997
Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children)M Mathieu, C Piussan, F Thepot, et al.
Epilepsia|April 27, 2019
Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizuresJulien Denis, Nathalie Villeneuve, Pierre Cacciagli, et al.
European Journal of Human Genetics : EJHG|November 6, 2008
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathyDorien Lugtenberg, Tjitske Kleefstra, Astrid R Oudakker, et al.
Plos One|September 21, 2022
Epidemiology and risk factors related to severity of clinical manifestations of COVID-19 in outpatients: A retrospective study in HaitiMentor Ali Ber Lucien, Katilla Pierre, Gladzdin Jean-Denis, et al.
European Journal of Human Genetics : EJHG|March 30, 2006
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populationsSébastien Albert, Hélène Blons, Laurence Jonard, et al.
American Journal of Human Genetics|September 3, 2013
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defectsEsther Kott, Marie Legendre, Bruno Copin, et al.
Molecular Genetics & Genomic Medicine|August 9, 2019
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French seriesJustine Lerat, Corinne Magdelaine, Anne-Françoise Roux, et al.
Human Mutation|February 15, 2020
Exome sequencing identifies the first genetic determinants of sirenomelia in humansFrançois Lecoquierre, Anne-Claire Brehin, Sophie Coutant, et al.
American Journal of Medical Genetics. Part A|May 20, 2004
Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysisDelphine Feldmann, Françoise Denoyelle, Pierre Chauvin, et al.
American Journal of Human Genetics|November 4, 2017
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and MiceLara De Tomasi, Pierre David, Camille Humbert, et al.
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