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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2019
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literatureErin Torti, Boris Keren, Elizabeth E Palmer, et al.
Annals of Surgery|July 27, 2022
Novel Benchmark Values for Redo Liver Transplantation: Does the Outcome Justify the Effort?Fariba Abbassi, Daniel Gero, Xavier Muller, et al.
Human Mutation|October 25, 2019
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicityHanyin Cheng, Simona Capponi, Emma Wakeling, et al.
Hepatology (Baltimore, Md.)|February 21, 2024
Genome-wide association study identifies high-impact susceptibility loci for HCC in North AmericaManal M Hassan, Donghui Li, Younghun Han, et al.
Biorxiv : the Preprint Server for Biology|February 9, 2026
Activating Ras-MAPK pathway variants drive hippocampal clonal competition in human epilepsySattar Khoshkhoo, Mingyun Bae, Yilan Wang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 31, 2021
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomaliesGabriel C Dworschak, Jaya Punetha, Jeshurun C Kalanithy, et al.
Nature Genetics|February 16, 2010
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delaySanthosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, et al.
Medrxiv : the Preprint Server for Health Sciences|December 25, 2025
A Multi-Symptom Circuit Architecture of Obsessive-Compulsive DisorderBarbara Hollunder, Garance M Meyer, Ningfei Li, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|December 14, 2017
Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017Veda N Giri, Karen E Knudsen, William K Kelly, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2022
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variantsSayaka Kayumi, Luis A Pérez-Jurado, María Palomares, et al.
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