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Journal of Human Genetics|March 21, 2014
An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalitiesToshiyuki Yamamoto, Anna Wilsdon, Shelagh Joss, et al.American Journal of Medical Genetics. Part A|May 3, 2016
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple eventsChristine M Armour, Amanda Smith, Taila Hartley, et al.Scientific Reports|March 26, 2022
Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecanEva-Lena Stattin, Karin Lindblom, André Struglics, et al.Journal of Food Protection|May 21, 2004
In vitro inactivation of Escherichia coli O157:H7 in bovine rumen fluid by caprylic acidThirunavukkarasu Annamalai, Manoj Kumar Mohan Nair, Patrick Marek, et al.Molecular Genetics & Genomic Medicine|June 25, 2020
Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing lossThomas Nixon, Allan J Richards, Adrian Lomas, et al.Cancer Medicine|July 26, 2024
Feasibility of whole-body MRI for cancer screening in children and young people with ataxia telangiectasia: A mixed methods cross-sectional studyRenata Neves, Rafal Panek, Katie Clarkson, et al.Proceedings of the National Academy of Sciences of the United States of America|March 5, 2014
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosisVasyl Nesin, Graham Wiley, Maria Kousi, et al.Health Expectations : an International Journal of Public Participation in Health Care and Health Policy|March 17, 2023
Whole-body MRI for cancer surveillance in ataxia-telangiectasia: A qualitative study of the perspectives of people affected by A-T and their familiesRenata Neves, Blanca de Dios Perez, Tierney Tindall, et al.Hormone Research in Paediatrics|May 1, 2015
Recombinant Human Growth Hormone Therapy in Children with Chromosome 15q26 DeletionSheau Chui Ho, Peter Clayton, Pradeep Vasudevan, et al.American Journal of Medical Genetics. Part A|September 14, 2007
WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformationsMohnish Suri, Peter Kelehan, David O'neill, et al.Pageof 16