Showing results (51-60 of 58) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 58 results.
American Journal of Human Genetics|July 30, 2019
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental DisordersBjörn Fischer-Zirnsak, Lara Segebrecht, Max Schubach, et al.
American Journal of Medical Genetics. Part A|May 15, 2023
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 familiesMonica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 31, 2023
Insurance denials and diagnostic rates in a pediatric genomic research cohortTricia N Zion, Courtney D Berrios, Ana S A Cohen, et al.
American Journal of Human Genetics|March 26, 2024
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic featuresSureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, et al.
The Journal of Clinical Endocrinology and Metabolism|February 17, 2025
X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice GuidelineDalal S Ali, Thomas O Carpenter, Erik A Imel, et al.
The Journal of Clinical Endocrinology and Metabolism|April 17, 2025
X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice GuidelineAliya A Khan, Dalal S Ali, Natasha M Appelman-Dijkstra, et al.
European Journal of Human Genetics : EJHG|June 3, 2020
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndromeTheodore G Drivas, Dong Li, Divya Nair, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2022
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomesAna S A Cohen, Emily G Farrow, Ahmed T Abdelmoity, et al.
Pageof 6