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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 14, 2017
Noncoding copy-number variations are associated with congenital limb malformationRicarda Flöttmann, Bjørt K Kragesteen, Sinje Geuer, et al.Human Mutation|January 6, 2017
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMOMartina Skopkova, Friederike Hennig, Byung-Sik Shin, et al.Journal of Neurology, Neurosurgery, and Psychiatry|April 14, 2018
Comprehensive analysis of the mutation spectrum in 301 German ALS familiesKathrin Müller, David Brenner, Patrick Weydt, et al.Molecular Genetics & Genomic Medicine|April 2, 2014
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minorsStefanie Spiegler, Juliane Najm, Jian Liu, et al.American Journal of Human Genetics|September 17, 2013
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunctionKatrin Koehler, Meera Malik, Saqib Mahmood, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 25, 2019
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patientsSina Renner, Helke Schüler, Malik Alawi, et al.Movement Disorders : Official Journal of the Movement Disorder Society|December 30, 2021
Quality of Life After Deep Brain Stimulation of Pediatric Patients with Dyskinetic Cerebral Palsy: A Prospective, Single-Arm, Multicenter Study with a Subsequent Randomized Double-Blind Crossover (STIM-CP)Anne Koy, Andrea A Kühn, Julius Huebl, et al.American Journal of Human Genetics|March 29, 2016
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft PalateElisabeth Mangold, Anne C Böhmer, Nina Ishorst, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2021
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic featuresDiane D Shao, Rachel Straussberg, Hind Ahmed, et al.Journal of Medical Genetics|March 2, 2016
Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancerKarin Kast, Kerstin Rhiem, Barbara Wappenschmidt, et al.Pageof 9