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Human Mutation|May 22, 2018
Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-functionLyse Ruaud, Gillian I Rice, Christelle Cabrol, et al.
Human Genetics|August 26, 2021
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locusUirá Souto Melo, Juliette Piard, Björn Fischer-Zirnsak, et al.
Nature Genetics|February 26, 2004
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndromeChristian Windpassinger, Michaela Auer-Grumbach, Joy Irobi, et al.
Nature Genetics|November 19, 2013
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndromeSérgio B Sousa, Dagan Jenkins, Estelle Chanudet, et al.
American Journal of Human Genetics|January 17, 2003
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlationElfride De Baere, Diane Beysen, Christine Oley, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|July 14, 2004
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutationsSharola Dharmaraj, Bart P Leroy, Melanie M Sohocki, et al.
Annals of Neurology|May 4, 2004
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerveCraig L Bennett, Andrew J Shirk, Huy M Huynh, et al.
Annals of Clinical and Translational Neurology|January 13, 2017
POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonismLionel Van Maldergem, Arnaud Besse, Boel De Paepe, et al.
European Journal of Medical Genetics|August 14, 2016
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factorJeroen Breckpot, Marieke Vercruyssen, Eddy Weyts, et al.
Human Molecular Genetics|December 22, 2017
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesisJuliette Piard, Jia-Hua Hu, Philippe M Campeau, et al.
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