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European Journal of Human Genetics : EJHG|May 8, 2020
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwideClaudia Gonzaga-Jauregui, Gozde Yesil, Harikiran Nistala, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 9, 2026
An integrated cardiometabolic genetic testing program in a predominantly Hispanic population within a community settingBo Yuan, Layla A Abushamat, Stacey Pereira, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 10, 2026
Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal ModelingNathalie M Aceves-Ewing, Denise G Lanza, Paul C Marcogliese, et al.
Neuro-Oncology|July 12, 2023
Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programsErik A Williams, Ajay Ravindranathan, Rohit Gupta, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 31, 2018
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathiesBo Yuan, Juanita Neira, Davut Pehlivan, et al.
American Journal of Human Genetics|September 20, 2016
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological SyndromesTamar Harel, Wan Hee Yoon, Caterina Garone, et al.
Endocrine-Related Cancer|February 26, 2015
X-linked acrogigantism syndrome: clinical profile and therapeutic responsesAlbert Beckers, Maya Beth Lodish, Giampaolo Trivellin, et al.
The New England Journal of Medicine|December 4, 2014
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutationGiampaolo Trivellin, Adrian F Daly, Fabio R Faucz, et al.
American Journal of Human Genetics|November 24, 2020
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model OrganismsScott Barish, Tahsin Stefan Barakat, Brittany C Michel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2019
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage modelJiaqi Liu, Nan Wu, , et al.
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