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American Journal of Human Genetics|January 24, 2012
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndromeMichael A Simpson, Charu Deshpande, Dimitra Dafou, et al.
Oncogene|October 25, 2003
12p-amplicon structure analysis in testicular germ cell tumors of adolescents and adults by array CGHGaetano Zafarana, Beata Grygalewicz, Ad J M Gillis, et al.
European Journal of Human Genetics : EJHG|June 2, 2021
Solving patients with rare diseases through programmatic reanalysis of genome-phenome dataLeslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, et al.
Scientific Reports|August 19, 2025
Clinical utility of liquid biopsy next-generation sequencing for advanced non-small cell lung cancer in the NetherlandsTessa J J de Bitter, Maartje J Geerlings, Leonie I Kroeze, et al.
Human Molecular Genetics|July 7, 2009
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architectureLisenka E L M Vissers, Samarth S Bhatt, Irene M Janssen, et al.
American Journal of Human Genetics|June 19, 2018
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol BiosynthesisDavid Coman, Lisenka E L M Vissers, Lisa G Riley, et al.
Genome Medicine|June 16, 2022
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applicationsGaby Schobers, Jolanda H Schieving, Helger G Yntema, et al.
Regulatory Toxicology and Pharmacology : RTP|September 3, 2009
In vitro digestibility of beta-casein and beta-lactoglobulin under simulated human gastric and duodenal conditions: a multi-laboratory evaluationG Mandalari, K Adel-Patient, V Barkholt, et al.
Human Reproduction (Oxford, England)|April 12, 2022
De novo mutations in children born after medical assisted reproductionR M Smits, M J Xavier, M S Oud, et al.
NPJ Genomic Medicine|October 27, 2024
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnosesGerman Demidov, Burcu Yaldiz, José Garcia-Pelaez, et al.
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