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Iscience|February 3, 2025
Pathogenic <i>KIAA0586/TALPID3</i> variants are associated with defects in primary and motile ciliaJacqueline E Taudien, Diana Bracht, Heike Olbrich, et al.
Human Molecular Genetics|March 24, 2016
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesityDragana J Josifova, Glen R Monroe, Federico Tessadori, et al.
Neurogenetics|August 13, 2011
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autismEmma van Daalen, Chantal Kemner, Nienke E Verbeek, et al.
The Journal of Allergy and Clinical Immunology|October 22, 2013
Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficienciesIsaac J Nijman, Joris M van Montfrans, Marlous Hoogstraat, et al.
American Journal of Human Genetics|February 9, 2010
Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar SyndromeZafar Iqbal, Pilar Cejudo-Martin, Arjan de Brouwer, et al.
European Journal of Human Genetics : EJHG|February 22, 2023
KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney diseaseFloranne Boulogne, Laura R Claus, Henry Wiersma, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 24, 2009
A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorderBert van der Zwaag, Wouter G Staal, Ron Hochstenbach, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|November 19, 2024
Genetic testing in a national cohort of adults with chronic kidney disease of unknown originAmber de Haan, Mark Eijgelsheim, Liffert Vogt, et al.
Journal of Medical Genetics|July 5, 2018
Genetic obesity: next-generation sequencing results of 1230 patients with obesityLotte Kleinendorst, Maarten P G Massink, Mellody I Cooiman, et al.
Nature Genetics|October 28, 2008
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humansZubair M Ahmed, Saber Masmoudi, Ersan Kalay, et al.
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