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Human Molecular Genetics|September 1, 1996
A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagenA J Richards, J R Yates, R Williams, et al.Molecular Psychiatry|April 15, 2015
Global quantitative analysis of phosphorylation underlying phencyclidine signaling and sensorimotor gating in the prefrontal cortexD B McClatchy, J N Savas, S Martínez-Bartolomé, et al.American Journal of Human Genetics|July 31, 1998
A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British familiesN P Burrows, A C Nicholls, A J Richards, et al.Oncogene|November 6, 2007
Protein tyrosine phosphatase PTPN13 negatively regulates Her2/ErbB2 malignant signalingJ-H Zhu, R Chen, W Yi, et al.Proceedings of the National Academy of Sciences of the United States of America|April 1, 1991
Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginaseI Mononen, N Heisterkamp, V Kaartinen, et al.Human Molecular Genetics|March 21, 1998
Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysisJ R Yates, I van Bakel, T Sepp, et al.The British Journal of Ophthalmology|March 24, 2000
COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromesA J Richards, S Martin, J R Yates, et al.The Journal of Biological Chemistry|March 22, 1996
Identification of phosphorylation sites of human 85-kDa cytosolic phospholipase A2 expressed in insect cells and present in human monocytesM G de Carvalho, A L McCormack, E Olson, et al.Genomics|November 5, 1997
High-resolution physical map of the X-linked retinoschisis interval in Xp22S M Walpole, A Nicolaou, G R Howell, et al.Lancet (London, England)|March 21, 1987
Evidence that the gene for tuberous sclerosis is on chromosome 9A E Fryer, A Chalmers, J M Connor, et al.Pageof 56