Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene
Suriu, C, Khayat, M, Weiler, M, Kfir, N, Cohen, C, Zinger, A, Aslanidis, C, Schmitz, G, Falik-Zaccai, TC
Published in Clinical genetics (01.03.2009)
Published in Clinical genetics (01.03.2009)
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Journal Article
Chronic Lung Disease and Cystic Fibrosis Phenotype in Prolidase Deficiency: A Newly Recognized Association
Luder, A.S., MBBS, Mandel, H., MD, Khayat, M., PhD, Gurevich, I., MSc, Frankel, P., MSc, Rivlin, J., MD, Falik-Zaccai, T.C., MD
Published in The Journal of pediatrics (01.06.2007)
Published in The Journal of pediatrics (01.06.2007)
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Journal Article
OP14.08: Prenatal diagnosis of a new cobblestone malformation complex disorder: Walker‐Warburg syndrome associated with tectocerebellar dysraphia
Leibovitz, Z., Mandel, H., Falik‐Zaccai, T., Ben Harouch, S., Savitzki, D., Bakry, H., Sagie, S., Haratz, K.K., Tamarkin, M., Lev, D., Dobyns, W., Lerman‐Sagie, T., Gindes, L.
Published in Ultrasound in obstetrics & gynecology (01.09.2017)
Published in Ultrasound in obstetrics & gynecology (01.09.2017)
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Journal Article
Mucolipidosis III type C: first-trimester biochemical and molecular prenatal diagnosis
Falik-Zaccai, T. C., Zeigler, M., Bargal, R., Bach, G., Borochowitz, Z., Raas-Rothschild, A.
Published in Prenatal diagnosis (01.03.2003)
Published in Prenatal diagnosis (01.03.2003)
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Journal Article
DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex
Rugg, E. L., Baty, D., Shemanko, C. S., Magee, G., Polak, S., Bergman, R., Kadar, T., Boxer, M., Falik-Zaccai, T., Borochowitz, Z., Lane, E. B.
Published in Prenatal diagnosis (01.05.2000)
Published in Prenatal diagnosis (01.05.2000)
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Journal Article
Achondroplasia in diverse Jewish and Arab populations in Israel: clinical and molecular characterization
Falik-Zaccai, T C, Shachak, E, Abeliovitch, D, Lerer, I, Shefer, R, Carmi, R, Ries, L, Friedman, M, Shohat, M, Borochowitz, Z
Published in The Israel Medical Association journal (01.08.2000)
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Published in The Israel Medical Association journal (01.08.2000)
Journal Article
Predisposition to the fragile X syndrome in jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype
FALIK-ZACCAI, T. C, SHACHAK, E, YALON, M, LIS, Z, BOROCHOWITZ, Z, MACPHERSON, J. N, NELSON, D. L, EICHLER, E. E
Published in American journal of human genetics (1997)
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Published in American journal of human genetics (1997)
Journal Article
073 Molecular epidemiology of epidermolysis bullosa in a Middle Eastern population
Bergson, S., Daniely, D., Bomze, D., Falik-Zaccai, T., Avitan-Hersh, E., Shalev, S., Schwartz, M Eskin, Sarig, O., Sprecher, E., Samuelov, L.
Published in Journal of investigative dermatology (01.10.2021)
Published in Journal of investigative dermatology (01.10.2021)
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Journal Article
A New Genetic Isolate of Gray Platelet Syndrome (GPS): Clinical, Cellular, and Hematologic Characteristics
Falik-Zaccai, Tzipora C, Anikster, Yair, Rivera, Candido E, Horne, McDonald K, Schliamser, Liliana, Phornphutkul, Chanika, Attias, Dina, Hyman, Tehila, White, James G, Gahl, William A
Published in Molecular genetics and metabolism (01.11.2001)
Published in Molecular genetics and metabolism (01.11.2001)
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Journal Article
P.60A retrospective study of the combination of pyrimidine nucleos(t)ides in patients with thymidine kinase 2 (TK2) deficiency
Quan, J., Domínguez-González, C., Paradas, C., Madruga-Garrido, M., Nascimento Osorio, A., Munell, F., Mandel, H., Falik-Zaccai, T., Ginsberg, M., Tal, G., Garone, C., Barca, E., Moors, T., Hirano, M.
Published in Neuromuscular disorders : NMD (01.10.2019)
Published in Neuromuscular disorders : NMD (01.10.2019)
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Journal Article
Population screening in a Druze community: the challenge and the reward
Falik-Zaccai, Tzipora C., Kfir, Nechama, Frenkel, Pnina, Cohen, Cindy, Tanus, Mary, Mandel, Hanna, Shihab, Shihab, Morkos, Siman, Aaref, Salameh, Summar, Marshall L., Khayat, Morad
Published in Genetics in medicine (01.12.2008)
Published in Genetics in medicine (01.12.2008)
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Journal Article
Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel
Reish, Orit, Borochowitz, Zvi U., Adir, Vardit, Shohat, Mordechai, Karpati, Mazal, Shtorch, Atalia, Orr-Urtreger, Avi, Yaron, Yuval, Shalev, Stavit, Fares, Fuad, Gershoni-Baruch, Ruth, Falik-Zaccai, Tzipora C., Chapman-Shimshoni, Daphne
Published in Genetics in medicine (01.02.2009)
Published in Genetics in medicine (01.02.2009)
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Journal Article
Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population
Horowitz, Mia, Pasmanik-Chor, Metsada, Borochowitz, Zvi, Falik-Zaccai, Tzipora, Heldmann, Keren, Carmi, Rivka, Parvari, Ruth, Beit-Or, Hannah, Goldman, Boleslav, Peleg, Lea, Levy-Lahad, Ephrat, Renbaum, Paul, Legum, Searl, Shomrat, Ruth, Yeger, Hannah, Benbenisti, Dalit, Navon, Ruth, Dror, Vardit, Shohat, Mordechai, Magal, Nurit, Navot, Nir, Eyal, Nurit
Published in Human mutation (1998)
Published in Human mutation (1998)
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Journal Article
The anuric preterm newborn infant with a normal renal ultrasound: a diagnostic and ethical challenge
Waisman, Dan, Kessel, Irena, Ish‐Shalom, Nathan, Maroun, Lisa, Riskin‐Mashiah, Shlomit, Falik‐Zaccai, Tzipora, Weintraub, Zalman, Albersheim, Susan, Rotschild, Avi
Published in Prenatal diagnosis (01.04.2006)
Published in Prenatal diagnosis (01.04.2006)
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Journal Article
Familial juvenile hypertrophy of the breast
Govrin-Yehudain, Jacky, Kogan, Leonid, Cohen, Hector.I., Falik-Zaccai, Tzipora C.
Published in Journal of adolescent health (01.08.2004)
Published in Journal of adolescent health (01.08.2004)
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Journal Article
Coronary Heart Disease among Circassians in Israel Is Not Associated with Mutations in Thrombophilia Genes
FALIK-ZACCAI, TZIPORA C., HARON, YAFA, EILAT, DANNY, HARASH, BAKKY, GOLINKER, EKATERINA, HUSSEIN, OSAMAH, EISIKOVITS, RIVKA, BOROCHOWITZ, ZVI, LINN, SHAI
Published in Human biology (01.02.2003)
Published in Human biology (01.02.2003)
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