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Showing results (291-300 of 310) with videos related to

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Journal of Medical Genetics|October 16, 2020
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomicsGina Ravenscroft, Joshua S Clayton, Fathimath Faiz, et al.
NPJ Genomic Medicine|December 11, 2020
A flexible computational pipeline for research analyses of unsolved clinical exome casesTimo Lassmann, Richard W Francis, Alexia Weeks, et al.
Human Molecular Genetics|June 25, 2021
Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disordersEthiraj Ravindran, Ramona Jühlen, Carlos H Vieira-Vieira, et al.
Orphanet Journal of Rare Diseases|June 30, 2017
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxiaJessica L Zambonin, Allison Bellomo, Hilla Ben-Pazi, et al.
European Journal of Human Genetics : EJHG|July 18, 2020
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")Edwin P Kirk, Royston Ong, Kirsten Boggs, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2020
Revealing hidden genetic diagnoses in the ocular anterior segment disordersAlan Ma, Saira Yousoof, John R Grigg, et al.
Human Mutation|February 4, 2014
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndromeRoberta Piras, Francesca Chiappe, Ilaria La Torraca, et al.
Clinical Epigenetics|September 1, 2018
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndromeVinod Dagar, Wendy Hutchison, Andrea Muscat, et al.
The Journal of Trauma and Acute Care Surgery|June 11, 2025
Plasminogen supplementation improves lysis of inflammatory retained traumatic hemothoraxElizabeth R Maginot, Flobater I Gawargi, Ernest E Moore, et al.
Epigenomics|May 30, 2023
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with <i>KAT6A</i>/<i>KAT6B</i> variantsNiels Vos, Jack Reilly, Mariet W Elting, et al.
Pageof 31

Showing results (291-300 of 310) with videos related to

Sort By:
Pageof 31
Journal of Medical Genetics|October 16, 2020
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomicsGina Ravenscroft, Joshua S Clayton, Fathimath Faiz, et al.
NPJ Genomic Medicine|December 11, 2020
A flexible computational pipeline for research analyses of unsolved clinical exome casesTimo Lassmann, Richard W Francis, Alexia Weeks, et al.
Human Molecular Genetics|June 25, 2021
Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disordersEthiraj Ravindran, Ramona Jühlen, Carlos H Vieira-Vieira, et al.
Orphanet Journal of Rare Diseases|June 30, 2017
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxiaJessica L Zambonin, Allison Bellomo, Hilla Ben-Pazi, et al.
European Journal of Human Genetics : EJHG|July 18, 2020
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")Edwin P Kirk, Royston Ong, Kirsten Boggs, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2020
Revealing hidden genetic diagnoses in the ocular anterior segment disordersAlan Ma, Saira Yousoof, John R Grigg, et al.
Human Mutation|February 4, 2014
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndromeRoberta Piras, Francesca Chiappe, Ilaria La Torraca, et al.
Clinical Epigenetics|September 1, 2018
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndromeVinod Dagar, Wendy Hutchison, Andrea Muscat, et al.
The Journal of Trauma and Acute Care Surgery|June 11, 2025
Plasminogen supplementation improves lysis of inflammatory retained traumatic hemothoraxElizabeth R Maginot, Flobater I Gawargi, Ernest E Moore, et al.
Epigenomics|May 30, 2023
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with <i>KAT6A</i>/<i>KAT6B</i> variantsNiels Vos, Jack Reilly, Mariet W Elting, et al.
Pageof 31