Showing results (11-20 of 30) with videos related to
Sort By:
Pageof 3
Nucleic Acids Research|November 25, 2004
Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arraysGabrielle S Sellick, Cheryl Longman, John Tolmie, et al.Hormone Research|October 10, 2006
Deterioration of visual acuity associated with growth hormone therapy in a child with extreme short stature and high hypermetropiaWendy F Paterson, Brian Kelly, William Newman, et al.Fertility and Sterility|February 25, 2015
DNA copy number variations are important in the complex genetic architecture of müllerian disordersRuth McGowan, Graham Tydeman, David Shapiro, et al.European Journal of Medical Genetics|August 6, 2011
Clinical features and respiratory complications in Myhre syndromeRuth McGowan, Ramkumar Gulati, Pamela McHenry, 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.Scientific Reports|September 2, 2022
Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patientsNanna Dahl Rendtorff, Helena Gásdal Karstensen, Marianne Lodahl, et al.Epilepsia|April 19, 2003
Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsyAilsa McLellan, Hilary A Phillips, Christopher Rittey, et al.Nature Genetics|October 12, 2004
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1BSandra Hanks, Kim Coleman, Sarah Reid, et al.Nature Genetics|December 14, 2011
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndromeCarine Le Goff, Clémentine Mahaut, Avinash Abhyankar, et al.Journal of Molecular Medicine (Berlin, Germany)|February 18, 2015
Diverse phenotypic consequences of mutations affecting the C-terminus of FLNAMargriet van Kogelenberg, Alice R Clark, Zandra Jenkins, et al.Pageof 3