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Clinical Genetics|March 21, 2017
Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic typeE Reinstein, V Drasinover, R Lotan, et al.
The Journal of Pediatrics|August 1, 1990
Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and tracheaM Shohat, H E Gruber, R A Pagon, et al.
Prenatal Diagnosis|October 1, 1995
Amniocentesis rate and the detection of Down syndrome and other chromosomal anomalies in IsraelM Shohat, E Akstein, B Davidov, et al.
American Journal of Medical Genetics|October 1, 1990
Rearrangement of chromosome 15 in the region q11.2----q12 in an individual with obesity syndrome and her normal motherM Shohat, T Shohat, D L Rimoin, et al.
American Journal of Medical Genetics|July 1, 1993
Regional mapping of the gene for familial Mediterranean fever on human chromosome 16p13N Fischel-Ghodsian, X Bu, T R Prezant, et al.
American Journal of Medical Genetics|April 11, 1991
Deletion of 20p 11.23----pter with normal growth hormone-releasing hormone genesM Shohat, V Herman, S Melmed, et al.
American Journal of Medical Genetics|August 15, 2001
Phenotypic expression of tissue mosaicism in a 45,X/46,X,dicY(q11.2) femaleY Udler, A Kauschansky, J Yeshaya, et al.
The Journal of Investigative Dermatology|October 1, 1994
Localization of the gene for Darier disease to a 5-cM interval on chromosome 12qS Ikeda, P Wakem, A Haake, et al.
The EMBO Journal|March 1, 1987
Superinduction of the human gene encoding immune interferonM A Lebendiker, C Tal, D Sayar, et al.
European Journal of Human Genetics : EJHG|June 15, 2000
Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groupsN Stoffman, N Magal, T Shohat, et al.
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