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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2023
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7Liselot van der Laan, Karim Karimi, Kathleen Rooney, et al.
American Journal of Human Genetics|August 5, 2014
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disordersIan M Campbell, Bo Yuan, Caroline Robberecht, et al.
Nature Genetics|February 18, 2014
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNPCéline Helsmoortel, Anneke T Vulto-van Silfhout, Bradley P Coe, et al.
European Journal of Pediatrics|March 30, 2023
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the NetherlandsRichelle A C M Olde Keizer, Abderrahim Marouane, Wilhelmina S Kerstjens-Frederikse, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2022
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genesSuzanne E de Bruijn, Kim Rodenburg, Jordi Corominas, et al.
The Journal of Clinical Investigation|July 14, 2015
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disabilityGunnar Houge, Dorien Haesen, Lisenka E L M Vissers, et al.
Nature Genetics|May 1, 2012
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndromeDavid A Koolen, Jamie M Kramer, Kornelia Neveling, et al.
American Journal of Human Genetics|April 9, 2016
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal LesionsNiccolò E Mencacci, Erik-Jan Kamsteeg, Kosuke Nakashima, et al.
Scientific Data|April 14, 2022
FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and researchK Joeri van der Velde, Gurnoor Singh, Rajaram Kaliyaperumal, et al.
European Journal of Human Genetics : EJHG|October 18, 2023
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samplesRobin Wijngaard, German Demidov, Luke O'Gorman, et al.
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