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The Journal of Pediatrics|April 9, 2021
Bleeding Severity and Phenotype in 22q11.2 Deletion Syndrome-A Cross-Sectional InvestigationPriyal O Patel, Adriane L Baylis, Scott E Hickey, et al.
Cytogenetic and Genome Research|July 27, 2017
Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental DisomyStephanie L Santoro, Sayaka Hashimoto, Aimee McKinney, et al.
European Journal of Medical Genetics|July 17, 2013
A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocationScott E Hickey, Devon Lamb Thrush, Lauren Walters-Sen, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|August 14, 2020
Impact of Interdisciplinary Team Care for Children With 22q11.2 Deletion SyndromeScott E Hickey, Brian Kellogg, Meghan O'Brien, et al.
American Journal of Medical Genetics. Part A|June 3, 2024
Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndromeLaura D Owlett, Bianca Zapanta, Sarah E Sandkuhler, et al.
European Journal of Medical Genetics|August 16, 2019
Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 geneElizabeth S Barrie, Catherine E Cottrell, Julie Gastier-Foster, et al.
Cold Spring Harbor Molecular Case Studies|January 7, 2018
A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndromeDaniel C Koboldt, Theresa Mihalic Mosher, Benjamin J Kelly, et al.
European Journal of Medical Genetics|May 14, 2014
Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasiaLauren C Walters-Sen, Devon Lamb Thrush, Scott E Hickey, et al.
American Journal of Medical Genetics. Part A|July 31, 2013
Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndromeScott E Hickey, Lauren Walters-Sen, Theresa Mihalic Mosher, et al.
Clinical Case Reports|February 16, 2022
Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunctionNicolas J Abreu, Amy E Siemon, Adriane L Baylis, et al.
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