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American Journal of Medical Genetics. Part A|August 4, 2020
A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profileMarianna Farnè, Giovanna M Tedesco, Chiara Bedetti, et al.Science (New York, N.Y.)|March 16, 2002
Effectiveness of donor natural killer cell alloreactivity in mismatched hematopoietic transplantsLoredana Ruggeri, Marusca Capanni, Elena Urbani, et al.The Journal of Clinical Endocrinology and Metabolism|September 23, 2017
Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated HypoparathyroidismLuigia Cinque, Angelo Sparaneo, Laura Penta, et al.Genes|September 28, 2021
A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3Elisabetta Flex, Valentina Imperatore, Giovanna Carpentieri, et al.International Journal of Molecular Sciences|August 27, 2021
Identification of a DNA Methylation Episignature in the 22q11.2 Deletion SyndromeKathleen Rooney, Michael A Levy, Sadegheh Haghshenas, et al.American Journal of Medical Genetics. Part A|January 14, 2021
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotypeMaria Giovanna Tedesco, Fortunato Lonardo, Caterina Ceccarini, et al.American Journal of Medical Genetics. Part A|July 24, 2012
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotypeJudith Allanson, Amanda Smith, Heather Hare, et al.Human Molecular Genetics|December 30, 2025
Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmiaHieu D Hoang, Rebecca C Spillmann, Daniel J Wegner, et al.Pageof 2