Joël Zlotogora
机构: Adjunct professor of human genetics, Hebrew University Jerusalem
每年引用次数
引用次数
引用: 9,449
H-指数: 49
I10-指数 : 157
出版物: 253
Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel
Mohammad A. Rafi , Paola Luzi , Joel Zlotogora , David A. Wenger
Human Genetics 97 ( 3) 304 -308
53
1996
High Incidence of Profound Deafness in an Isolated Community
Joel Zlotogora , Saleh Barges
Genetic Testing 7 ( 2) 143 -145
7
2003
Problems in the clinical interpretation of arylsulfatase A deficiency.
Joel Zlotogora , Tamar Schaap , Gideon Bach , John M. Opitz
American Journal of Medical Genetics 10 ( 4) 413 -415
4
1981
Deficiency of lysosomal hydrolases in apparently healthy individuals
Joel Zlotogora , Gideon Bach
American Journal of Medical Genetics 14 ( 1) 73 -80
18
1983
Genetics and Public Health in the 21st Century, by M.J. Khoury, W. Burke, and E. Thomson
Joel Zlotogora
American Journal of Medical Genetics 110 ( 4) 412 -412
2002
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia
Koji Suzuki , Diane Hu , Tania Bustos , Joel Zlotogora
Nature Genetics 25 ( 4) 427 -430
271
2000
Prenatal exclusion of stickler syndrome
Joel Zlotogora , Menachem Granat , Robert G. Knowlton
Prenatal Diagnosis 14 ( 2) 145 -147
10
1994
Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy.
Stefanie Hermann , Frank Schestag , Andreas Polten , Sabine Kafert
American Journal of Medical Genetics 91 ( 1) 68 -73
20
2000
ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size.
Rotem Kadir , Tamar Harel , Barak Markus , Yonatan Perez
PLOS Genetics 12 ( 3)
41
2016
Molecular genetics of metachromatic leukodystrophy
Volkmar Gieselmann , Joel Zlotogora , Ann Harris , David A. Wenger
Human Mutation 4 ( 4) 233 -242
99
1994
Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection.
George P Patrinos , Jumana Al Aama , Aida Al Aqeel , Fahd Al‐Mulla
Human Mutation 32 ( 1) 2 -9
24
2011
High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel.
Morad Khayat , Hagar Hardouf , Joel Zlotogora , Stavit Allon Shalev
American Journal of Medical Genetics Part A 152 ( 12) 3091 -3094
7
2010
Genetic screening for Krabbe disease: learning from the past and looking to the future.
Michal Macarov , Joel Zlotogora , Vardiella Meiner , Zinab Khatib
American Journal of Medical Genetics Part A 155 ( 3) 574 -576
6
2011
Prevention of lysosomal storage disorders in Israel.
Gideon Bach , Marsha Zeigler , Joel Zlotogora
Molecular Genetics and Metabolism 90 ( 4) 353 -357
16
2007
Genetics & your health: a guide for the 21st century family
Joel Zlotogora
American Journal of Medical Genetics 92 ( 5) 372 -372
2000
Syndrome of brittle cornea, blue sclera, and joint hyperextensibility.
Joel Zlotogora , David BenEzra , Tirza Cohen , Evelyne Cohen
American Journal of Medical Genetics 36 ( 3) 269 -272
20
1990
On the inheritance of primary spontaneous pneumothorax.
Igor Z. Abolnik , Izidore S. Lossos , Joel Zlotogora , Raphael Brauer
American Journal of Medical Genetics 40 ( 2) 155 -158
102
1991
Reply to Drs. Urioste and Martínez‐Frías
Joel Zlotogora
American Journal of Medical Genetics 39 ( 4) 494 -494
1
1991
Krabbe disease and protruding ears.
Joel Zlotogora , Tirza Cohen , John M. Opitz , James F. Reynolds
American Journal of Medical Genetics 28 ( 3) 759 -760
2
1987
Mucolipidosis III and bardet-biedl syndrome in the same family: Diagnostic pitfalls
Carlos R Gordon , Yaacov Bar-Ziv , Moshe Frydman , Joel Zlotogora
Brain & Development 12 ( 4) 403 -407
3
1990