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Journal of Human Genetics|October 10, 2020
The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteinsJing-Yi Xue, Zheng Wang, Sarah F Smithson, et al.American Journal of Medical Genetics. Part A|August 13, 2020
Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndromeTazeen Ashraf, Camelia Vaina, Dinesh Giri, et al.American Journal of Medical Genetics. Part A|November 18, 2010
Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLHMorag Collinson, Samantha J Leonard, Jocelyn Charlton, et al.Journal of Medical Genetics|November 21, 2022
Conclusion of diagnostic odysseys due to inversions disrupting <i>GLI3</i> and <i>FBN1</i>Alistair T Pagnamenta, Jing Yu, Julie Evans, et al.Human Mutation|July 25, 2018
Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndromeYan Zhou, Nils Koelling, Aimée L Fenwick, et al.American Journal of Human Genetics|December 27, 2008
Mutations in DDR2 gene cause SMED with short limbs and abnormal calcificationsRuth Bargal, Valerie Cormier-Daire, Ziva Ben-Neriah, et al.Clinical Dysmorphology|September 8, 2006
A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 geneGabrielle S Sellick, Kristein P Hoornaert, Geert R Mortier, et al.European Journal of Human Genetics : EJHG|March 8, 2018
Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancyK J Low, K Stals, R Caswell, et al.Journal of Medical Genetics|April 6, 2021
Mutations in phospholipase C eta-1 (<i>PLCH1</i>) are associated with holoprosencephalyIchrak Drissi, Emily Fletcher, Ranad Shaheen, et al.Prenatal Diagnosis|September 3, 2010
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirthC G Steward, R A Newbury-Ecob, R Hastings, et al.Pageof 5