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American Journal of Medical Genetics. Part A|December 12, 2023
De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complexAngie C Jelin, Elizabeth Wohler, Renan Martin, et al.
Disease Models & Mechanisms|February 3, 2022
An enriched environment re-establishes metabolic homeostasis by reducing obesity-induced inflammationSol Díaz de León-Guerrero, Jonathan Salazar-León, Karla F Meza-Sosa, et al.
Neurology. Genetics|February 24, 2018
Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37AMaureen A Mealy, Tai-Seung Nam, Santiago J Pardo, et al.
American Journal of Medical Genetics. Part A|September 24, 2015
Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblingsSalma Ben-Salem, Nara Sobreira, Nadia A Akawi, et al.
Epigenetics|April 1, 2016
ATRX binds to atypical chromatin domains at the 3' exons of zinc finger genes to preserve H3K9me3 enrichmentDavid Valle-García, Zulekha A Qadeer, Domhnall S McHugh, et al.
Frontiers in Genetics|June 21, 2024
Rare exonic CELSR3 variants identified in Bladder Exstrophy Epispadias ComplexAngie C Jelin, Nikolai Sopko, Nara Sobreira, et al.
Genome Research|September 6, 2011
Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencingNara L M Sobreira, Veena Gnanakkan, Michael Walsh, et al.
Molecular Neuropsychiatry|September 9, 2016
Neuregulin 3 Knockout Mice Exhibit Behaviors Consistent with Psychotic DisordersLindsay N Hayes, Alexey Shevelkin, Mariela Zeledon, et al.
American Journal of Human Genetics|September 11, 2004
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapyMatthias R Baumgartner, M Fernanda Dantas, Terttu Suormala, et al.
Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo|April 12, 2023
A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2Michele Patricia Migliavacca, Rodrigo Ambrosio Fock, Nadia Almeida, et al.
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