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American Journal of Medical Genetics. Part A|October 29, 2017
Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patientsLauren M Hurd, Mihir M Thacker, Ericka Okenfuss, et al.
Orphanet Journal of Rare Diseases|May 21, 2021
Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular diseaseAngela L Duker, Dagmar Kinderman, Christy Jordan, et al.
Nature Communications|November 4, 2023
Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasiaOphélie Gourgas, Gabrielle Lemire, Alison J Eaton, et al.
The Journal of Clinical Endocrinology and Metabolism|November 12, 2014
C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasiaRobert C Olney, Timothy C R Prickett, Eric A Espiner, et al.
European Journal of Human Genetics : EJHG|July 1, 2010
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndromeAngela L Duker, Blake C Ballif, Erawati V Bawle, et al.
American Journal of Medical Genetics. Part A|July 24, 2012
Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutationsMichael B Bober, Tim Niiler, Angela L Duker, et al.
Calcified Tissue International|March 11, 2022
Collagen X Marker Levels are Decreased in Individuals with AchondroplasiaRicki S Carroll, Robert C Olney, Angela L Duker, et al.
Anesthesia and Analgesia|October 20, 2023
Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational StudyMary C Theroux, Sabina DiCindio, Lauren W Averill, et al.
European Journal of Immunology|May 26, 2025
Mutations in RNU4ATAC Are Associated With Chilblain-Like Lesions and Enhanced Type I Interferon SignallingNic Robertson, Aakash Joshi, Francesca Ritchie, et al.
Human Mutation|May 3, 2019
Biallelic variants in DNA2 cause microcephalic primordial dwarfismŽygimantė Tarnauskaitė, Louise S Bicknell, Joseph A Marsh, et al.
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