Case 2: Developmental delay, especially language, in a toddler

Por Shapira, Moshe, Borochowitz, Zvi U
Publicado em 2008

SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4

Por Mandel, Hannah, Shemer, Revital, Borochowitz, Zvi U., Okopnik, Marina, Knopf, Carlos, Indelman, Margarita, Drugan, Arie, Tiosano, Dov, Gershoni-Baruch, Ruth, Choder, Mordechai, Sprecher, Eli
Publicado em 2008

A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees

Por Silberstein, Mark, Weissbrod, Omer, Otten, Lars, Tzemach, Anna, Anisenia, Andrei, Shtark, Oren, Tuberg, Dvir, Galfrin, Eddie, Gannon, Irena, Shalata, Adel, Borochowitz, Zvi U., Dechter, Rina, Thompson, Elizabeth, Geiger, Dan
Publicado em 2013

A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees

Por Silberstein, Mark, Weissbrod, Omer, Otten, Lars, Tzemach, Anna, Anisenia, Andrei, Shtark, Oren, Tuberg, Dvir, Galfrin, Eddie, Gannon, Irena, Shalata, Adel, Borochowitz, Zvi U., Dechter, Rina, Thompson, Elizabeth, Geiger, Dan
Publicado em 2013

Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia

Por Campos-Xavier, Ana Belinda, Martinet, Danielle, Bateman, John, Belluoccio, Dan, Rowley, Lynn, Tan, Tiong Yang, Baxová, Alica, Gustavson, Karl-Henrik, Borochowitz, Zvi U., Innes, A. Micheil, Unger, Sheila, Beckmann, Jacques S., Mittaz, Lauréane, Ballhausen, Diana, Superti-Furga, Andrea, Savarirayan, Ravi, Bonafé, Luisa
Publicado em 2009

Morbid Obesity Resulting from Inactivation of the Ciliary Protein CEP19 in Humans and Mice

Por Shalata, Adel, Ramirez, Maria C., Desnick, Robert J., Priedigkeit, Nolan, Buettner, Christoph, Lindtner, Claudia, Mahroum, Mohammed, Abdul-Ghani, Muhammad, Dong, Feng, Arar, Nazik, Camacho-Vanegas, Olga, Zhang, Rui, Camacho, Sandra C., Chen, Ying, Ibdah, Mwafaq, DeFronzo, Ralph, Gillespie, Virginia, Kelley, Kevin, Dynlacht, Brian D., Kim, Sehyun, Glucksman, Marc J., Borochowitz, Zvi U., Martignetti, John A.
Publicado em 2013