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Genetics in Medicine Open|December 13, 2024
The impact of the Turkish population variome on the genomic architecture of rare disease traitsZeynep Coban-Akdemir, Xiaofei Song, Francisco C Ceballos, et al.HGG Advances|December 24, 2021
<i>AHDC1</i> missense mutations in Xia-Gibbs syndromeMichael M Khayat, Jianhong Hu, Yunyun Jiang, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2015
Molecular diagnostic experience of whole-exome sequencing in adult patientsJennifer E Posey, Jill A Rosenfeld, Regis A James, et al.Annals of Clinical and Translational Neurology|April 15, 2020
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophyDana Marafi, Tadahiro Mitani, Sedat Isikay, et al.Neurology. Genetics|August 18, 2020
Integrated sequencing and array comparative genomic hybridization in familial Parkinson diseaseLaurie A Robak, Renqian Du, Bo Yuan, et al.Clinical Genetics|February 15, 2024
Expanding the phenotype of PPP1R21-related neurodevelopmental disorderMohammed Almannai, Dana Marafi, Maha S Zaki, et al.Medrxiv : the Preprint Server for Health Sciences|October 14, 2024
Resolution of <i>SLC6A1</i> variable expressivity in a multi-generational family using deep clinical phenotyping and <i>Drosophila</i> modelsKristy L Jay, Nikhita Gogate, Kim Ezell, et al.Genetics in Medicine Open|January 16, 2026
An evaluation of genetic predisposition to congenital anomalies and pediatric cancer supports <i>KAT6B</i> as a novel neuroblastoma susceptibility geneHyunjung Gu, Yao Yu, Saumya Dushyant Sisoudiya, et al.Journal of Genetics and Genomics = Yi Chuan Xue Bao|May 19, 2021
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short statureXin Fan, Sen Zhao, Chenxi Yu, et al.Human Genetics|March 12, 2021
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of FinlandIrma Järvelä, Tuomo Määttä, Anushree Acharya, et al.Pageof 20