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American Journal of Human Genetics|December 5, 2017
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb MalformationsElizabeth E Palmer, Raman Kumar, Christopher T Gordon, et al.
American Journal of Human Genetics|July 30, 2021
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolutionZornitza Stark, Rebecca E Foulger, Eleanor Williams, et al.
Lancet (London, England)|February 5, 2019
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort studyJenny Lord, Dominic J McMullan, Ruth Y Eberhardt, et al.
Molecules (Basel, Switzerland)|January 8, 2020
Breakthroughs in Medicinal Chemistry: New Targets and Mechanisms, New Drugs, New Hopes-6Jean Jacques Vanden Eynde, Arduino A Mangoni, Jarkko Rautio, et al.
Molecules (Basel, Switzerland)|July 2, 2020
Breakthroughs in Medicinal Chemistry: New Targets and Mechanisms, New Drugs, New Hopes-7Michael Gütschow, Jean Jacques Vanden Eynde, Josef Jampilek, et al.
American Journal of Human Genetics|April 15, 2014
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5Margaret J McMillin, Anita E Beck, Jessica X Chong, et al.
The Journal of Clinical Investigation|December 30, 2025
Mutant p53 promotes clonal hematopoiesis through generating a chronic inflammatory microenvironmentSisi Chen, Sergio Barajas, Sasidhar Vemula, et al.
Nucleic Acids Research|November 13, 2013
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataSebastian Köhler, Sandra C Doelken, Christopher J Mungall, et al.
Nature Protocols|February 22, 2019
Creation and analysis of biochemical constraint-based models using the COBRA Toolbox v.3.0Laurent Heirendt, Sylvain Arreckx, Thomas Pfau, et al.
Nucleic Acids Research|December 1, 2016
The Human Phenotype Ontology in 2017Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, et al.
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