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Journal of Medical Genetics|July 15, 2005
A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2K W Kjaer, H Eiberg, L Hansen, et al.Translational Stroke Research|September 16, 2021
The Genetic Basis of Moyamoya DiseaseR Mertens, M Graupera, H Gerhardt, et al.The Journal of Experimental Medicine|December 1, 1994
One gene, two transcripts: isolation of an alternative transcript encoding for the autoantigen La/SS-B from a cDNA library of a patient with primary Sjögrens' syndromeH Tröster, T E Metzger, I Semsei, et al.American Journal of Medical Genetics|September 1, 1992
Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type IIM Beck, C Steglich, B Zabel, et al.Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft|February 20, 1999
[Molecular genetic study of the PAX6 gene in aniridia patients]M Wolf, B Zabel, B Lorenz, et al.Journal of Medical Genetics|August 1, 1996
The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasiaA Winterpacht, A Superti-Furga, U Schwarze, et al.Journal of Structural Biology|August 23, 2011
Fetal and postnatal mouse bone tissue contains more calcium than is present in hydroxyapatiteC Lange, C Li, I Manjubala, et al.Journal of Medical Genetics|April 5, 2005
A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomaliesO Demirhan, S Türkmen, G C Schwabe, et al.Physiological Genomics|October 4, 2000
A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasiaA Winterpacht, K Hilbert, C Stelzer, et al.Developmental and Comparative Immunology|June 12, 2003
A single amphioxus and sea urchin runt-gene suggests that runt-gene duplications occurred in early chordate evolutionS Stricker, A J Poustka, U Wiecha, et al.Pageof 18