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Nature Genetics|December 1, 1993
Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexiaR Shiang, S G Ryan, Y Z Zhu, et al.American Journal of Medical Genetics|March 3, 1997
Growth hormone deficiency associated in the 18q deletion syndromeP D Ghidoni, D E Hale, J D Cody, et al.Annals of Neurology|March 1, 1996
Hypoplasia of the cerebellar vermis in neurogenetic syndromesG B Schaefer, J N Thompson, J B Bodensteiner, et al.Nature Genetics|September 1, 1997
Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparingS G Ryan, P F Chance, C H Zou, et al.Biochemistry|February 13, 1990
Modifications of position 12 in parathyroid hormone and parathyroid hormone related protein: toward the design of highly potent antagonistsM Chorev, M E Goldman, R L McKee, et al.The Journal of Pediatrics|May 9, 2001
Medial medullary injury during adenoidectomyP B Kang, H K Phuah, R A Zimmerman, et al.Annals of Neurology|June 1, 1992
Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysisS G Ryan, S L Sherman, J C Terry, et al.American Journal of Medical Genetics|June 1, 1994
Deletion 5q35.3R F Stratton, N A Tedrowe, J A Tolworthy, et al.Endocrinology|July 1, 1990
The bovine renal parathyroid hormone (PTH) receptor has equal affinity for two different amino acid sequences: the receptor binding domains of PTH and PTH-related protein are located within the 14-34 regionM P Caulfield, R L McKee, M E Goldman, et al.Nature Genetics|January 13, 1998
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy familyC Charlier, N A Singh, S G Ryan, et al.Pageof 4