Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects von Dodiuk-Gad, R.P., Cohen-Barak, E., Khayat, M., Milo, H., Amariglio-Diskin, L., Danial-Faran, N., Sah, M., Ziv, M., Shani-Adir, A., Amichai, B., Zlotogorski, A., Borochowitz, Z., Rozenman, D., Shalev, S.

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Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD von Borochowitz, Z U, Scheffer, D, Adir, V, Dagoneau, N, Munnich, A, Cormier-Daire, V

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Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing von Sharony, R., Borochowitz, Z., Cohen, L., Shtorch‐Asor, A., Rosenfeld, R., Modai, S., Reinstein, E.

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Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping von Harville, H M, Held, S, Diaz-Font, A, Davis, E E, Diplas, B H, Lewis, R A, Borochowitz, Z U, Zhou, W, Chaki, M, MacDonald, J, Kayserili, H, Beales, P L, Katsanis, N, Otto, E, Hildebrandt, F

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Response to 'Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects': reply from the authors von Dodiuk-Gad, R.P., Cohen-Barak, E., Khayat, M., Milo, H., Amariglio-Diskin, L., Danial-Faran, N., Sah, M., Ziv, M., Shani-Adir, A., Amichai, B., Zlotogorski, A., Borochowitz, Z., Rozenman, D., Shalev, S.

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SMPD1 mutations and Parkinson disease von Dagan, E, Adir, V, Schlesinger, I, Borochowitz, Z, Ayoub, M, Mory, A, Nassar, M, Kurolap, A, Aharon-Peretz, J, Gershoni-Baruch, R

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Founder mutation for Huntington disease in Caucasus Jews von Melamed, O., Behar, D. M., Bram, C., Magal, N., Pras, E., Reznik-Wolf, H., Borochowitz, Z. U., Davidov, B., Mor-Cohen, R., Baris, H. N.

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Heterozygous mutations in ANKH , the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia von Harrop, Karen, Goldblatt, Jack, Cunningham, Michael L, Westermann, Frank, Borochowitz, Zvi U, Thiele, Holger, Leschik, Gundula, Höhne, Wolfgang, Mundlos, Stefan, Braun, Hans-Steffen, Ritter, Heide, Uhlmann, Karen, Laing, Nigel, Chandler, David, Tinschert, Sigrid, Mischung, Claudia, Nürnberg, Peter, Kotzot, Dieter

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Dependence of maternal serum [AFP]/[hCG] median ratios on age of gestation: comparison of trisomy 21 to euploid pregnancies von Marcus-Braun, N., Birk, O., Manor, E., Segal, D., Harari, G., Toma, I., Shalev, S., Borochowitz, Z.U., Yaron, Y., Sharony, R., Itzhaky, D., Shtoyerman, R., Appelman, Z., Braun, G.

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Early metabolic defects in Arab subjects with strong family history of Type 2 diabetes von Shalata, A., Jazmawi, W., Aslan, O., Badarni, K., Dabbah, K., Sawaed, S., Castel, O. Cohen, Borochowitz, Z. U., Karkabi, K., DeFronzo, R., Abdul-Ghani, M.

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SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4 von Mandel, Hannah, Shemer, Revital, Borochowitz, Zvi U., Okopnik, Marina, Knopf, Carlos, Indelman, Margarita, Drugan, Arie, Tiosano, Dov, Gershoni-Baruch, Ruth, Choder, Mordechai, Sprecher, Eli

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Gain-of-function mutation of microRNA-140 in human skeletal dysplasia von Grigelioniene, Giedre, Suzuki, Hiroshi I., Taylan, Fulya, Mirzamohammadi, Fatemeh, Borochowitz, Zvi U., Ayturk, Ugur M., Tzur, Shay, Horemuzova, Eva, Lindstrand, Anna, Weis, Mary Ann, Grigelionis, Gintautas, Hammarsjö, Anna, Marsk, Elin, Nordgren, Ann, Nordenskjöld, Magnus, Eyre, David R., Warman, Matthew L., Nishimura, Gen, Sharp, Phillip A., Kobayashi, Tatsuya

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Familial lethal skeletal dysplasia with cloverleaf skull and multiple anomalies of brain, eye, face and heart: a new autosomal recessive multiple congenital anomalies syndrome von Sharony, R, Kidron, D, Amiel, A, Fejgin, M, Borochowitz, ZU

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Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia von Sheffield, Val C, Walder, Roxanne Y, Landau, Daniel, Meyer, Peter, Shalev, Hanna, Tsolia, Maria, Borochowitz, Zvi, Boettger, Melanie Barbara, Beck, Gretel E, Englehardt, Richard K, Carmi, Rivka

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Attitudes of Israeli Muslims at Risk of Genetic Disorders towards Pregnancy Termination von Neter, Efrat, Wolowelsky, Yael, Borochowitz, Zvi U.

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Preauricular tags and pits in the newborn: the role of hearing tests von Kugelman, A, Hadad, B, Ben-David, J, Podoshin, L, Borochowitz, Z, Bader, D

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DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex von 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.

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Mucolipidosis III type C: first-trimester biochemical and molecular prenatal diagnosis von Falik-Zaccai, T. C., Zeigler, M., Bargal, R., Bach, G., Borochowitz, Z., Raas-Rothschild, A.

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Absence of association of inherited thrombophilia with unexplained third-trimester intrauterine fetal death von Gonen, Ron, Lavi, Noa, Attias, Dina, Schliamser, Liliana, Borochowitz, Zvi, Toubi, Elias, Ohel, Gonen

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Genetic Heterogeneity of Saethre-Chotzen Syndrome, Due to TWIST and FGFR Mutations von Paznekas, William A., Cunningham, Michael L., Howard, Timothy D., Korf, Bruce R., Lipson, Mark H., Grix, Art W., Feingold, Murray, Goldberg, Rosalie, Borochowitz, Zvi, Aleck, Kirk, Mulliken, John, Yin, Mingfei, Jabs, Ethylin Wang

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