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Journal of Clinical Epidemiology|February 21, 2026
Prioritizing topics for a Clinical Practice Guideline on SATB2-Associated Syndrome: Methodological rigor versus clinical usabilityCharlotte Maria Wilhelmina Gaasterland, Mirthe Jasmijn Klein Haneveld, Barber Maria Tinselboer, et al.
Clinical Genetics|December 31, 2020
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2Yuri A Zarate, Katherine A Bosanko, Mary Ann Thomas, et al.
American Journal of Medical Genetics. Part A|April 4, 2019
Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndromeYuri A Zarate, Luigi Boccuto, Sujata Srikanth, et al.
Orphanet Journal of Rare Diseases|April 27, 2019
Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature reviewShelagh M Szabo, Ioannis C Tomazos, Anna Petryk, et al.
Clinical Genetics|May 27, 2025
ACTC1 Variants Result in Isolated and Syndromic Cardiac PhenotypesYuri A Zarate, Lina Abdelmoti, Seungjae Oh, et al.
American Journal of Medical Genetics. Part A|February 8, 2017
The society for craniofacial genetics and developmental biology 39th annual meetingJennifer L Fish, Craig Albertson, Matthew P Harris, et al.
Clinical Oral Investigations|October 14, 2018
Dental radiographic findings in 18 individuals with SATB2-associated syndromeJohn Scott, Chad Adams, Kirt Simmons, et al.
Frontiers in Genetics|July 8, 2021
Case Report: SATB2-Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two CasesYuri A Zarate, Hilary J Vernon, Katherine A Bosanko, et al.
Birth Defects Research|July 18, 2019
Nuclear radiation and prevalence of structural birth defects among infants born to women from the Marshall IslandsWendy N Nembhard, Pearl A McElfish, Britni Ayers, et al.
American Journal of Medical Genetics. Part A|June 7, 2016
SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional casesYuri A Zarate, Elizabeth Bhoj, Julie Kaylor, et al.
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