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	41.	Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene. [electronic resource] by Baris, Hagit Bejjani, Bassem A Tan, Wen-Hann Coulter, David L Martin, Judith A Storm, Andrea L Burton, Barbara K Saitta, Sulagna C Gajecka, Marzena Ballif, Blake C Irons, Mira B Shaffer, Lisa G Kimonis, Virginia E Producer: 20061019 In: American journal of medical genetics. Part A vol. 140A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	42.	Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance. [electronic resource] by Lieberman, Sari Walsh, Tom Schechter, Menachem Adar, Tomer Goldin, Eran Beeri, Rachel Sharon, Nitzan Baris, Hagit Ben Avi, Liat Half, Elizabeth Lerer, Israela Shirts, Brian H Pritchard, Colin C Tomlinson, Ian King, Mary-Claire Levy-Lahad, Ephrat Peretz, Tamar Goldberg, Yael Producer: 20170814 In: Gastroenterology vol. 152 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	43.	Lynch Syndrome in high risk Ashkenazi Jews in Israel. [electronic resource] by Goldberg, Yael Kedar, Inbal Kariiv, Revital Halpern, Naama Plesser, Morasha Hubert, Ayala Kaduri, Luna Sagi, Michal Lerer, Israela Abeliovich, Dvorah Hamburger, Tamar Nissan, Aviram Goldshmidt, Hanoch Solar, Irit Geva, Ravit Strul, Hana Rosner, Guy Baris, Hagit Levi, Zohar Peretz, Tamar Producer: 20150511 In: Familial cancer vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	44.	Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial. [electronic resource] by Mistry, Pramod K Lukina, Elena Ben Turkia, Hadhami Shankar, Suma P Baris, Hagit Ghosn, Marwan Mehta, Atul Packman, Seymour Pastores, Gregory Petakov, Milan Assouline, Sarit Balwani, Manisha Danda, Sumita Hadjiev, Evgueniy Ortega, Andres Gaemers, Sebastiaan J M Tayag, Regina Peterschmitt, M Judith Producer: 20171024 In: American journal of hematology vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	45.	Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. [electronic resource] by Chen, Anlu Tiosano, Dov Guran, Tulay Baris, Hagit N Bayram, Yavuz Mory, Adi Shapiro-Kulnane, Laura Hodges, Craig A Akdemir, Zeynep C Turan, Serap Jhangiani, Shalini N van den Akker, Focco Hoppel, Charles L Salz, Helen K Lupski, James R Buchner, David A Producer: 20190214 In: Human molecular genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	46.	VarElect: the phenotype-based variation prioritizer of the GeneCards Suite. [electronic resource] by Stelzer, Gil Plaschkes, Inbar Oz-Levi, Danit Alkelai, Anna Olender, Tsviya Zimmerman, Shahar Twik, Michal Belinky, Frida Fishilevich, Simon Nudel, Ron Guan-Golan, Yaron Warshawsky, David Dahary, Dvir Kohn, Asher Mazor, Yaron Kaplan, Sergey Iny Stein, Tsippi Baris, Hagit N Rappaport, Noa Safran, Marilyn Lancet, Doron Producer: 20170905 In: BMC genomics vol. 17 Suppl 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	47.	Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial. [electronic resource] by Mistry, Pramod K Lukina, Elena Ben Turkia, Hadhami Amato, Dominick Baris, Hagit Dasouki, Majed Ghosn, Marwan Mehta, Atul Packman, Seymour Pastores, Gregory Petakov, Milan Assouline, Sarit Balwani, Manisha Danda, Sumita Hadjiev, Evgueniy Ortega, Andres Shankar, Suma Solano, Maria Helena Ross, Leorah Angell, Jennifer Peterschmitt, M Judith Producer: 20150303 In: JAMA vol. 313 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	48.	Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). [electronic resource] by Haer-Wigman, Lonneke Newman, Hadas Leibu, Rina Bax, Nathalie M Baris, Hagit N Rizel, Leah Banin, Eyal Massarweh, Amir Roosing, Susanne Lefeber, Dirk J Zonneveld-Vrieling, Marijke N Isakov, Ofer Shomron, Noam Sharon, Dror Den Hollander, Anneke I Hoyng, Carel B Cremers, Frans P M Ben-Yosef, Tamar Producer: 20160428 In: Human molecular genetics vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	49.	Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy. [electronic resource] by Kurolap, Alina Eshach-Adiv, Orly Hershkovitz, Tova Paperna, Tamar Mory, Adi Oz-Levi, Danit Zohar, Yaniv Mandel, Hanna Chezar, Judith Azoulay, David Peleg, Sarit Half, Elizabeth E Yahalom, Vered Finkel, Lilach Weissbrod, Omer Geiger, Dan Tabib, Adi Shaoul, Ron Magen, Daniella Bonstein, Lilach Mevorach, Dror Baris, Hagit N Producer: 20170719 In: The New England journal of medicine vol. 377 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	50.	No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency. [electronic resource] by Tesch, Victoria K IJspeert, Hanna Raicht, Andrea Rueda, Daniel Dominguez-Pinilla, Nerea Allende, Luis M Colas, Chrystelle Rosenbaum, Thorsten Ilencikova, Denisa Baris, Hagit N Nathrath, Michaela H M Suerink, Manon Januszkiewicz-Lewandowska, Danuta Ragab, Iman Azizi, Amedeo A Wenzel, Soeren S Zschocke, Johannes Schwinger, Wolfgang Kloor, Matthias Blattmann, Claudia Brugieres, Laurence van der Burg, Mirjam Wimmer, Katharina Seidel, Markus G Publication details: Frontiers in immunology 2018 In: Frontiers in immunology vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	51.	Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction. [electronic resource] by Tiosano, Dov Baris, Hagit N Chen, Anlu Hitzert, Marrit M Schueler, Markus Gulluni, Federico Wiesener, Antje Bergua, Antonio Mory, Adi Copeland, Brett Gleeson, Joseph G Rump, Patrick van Meer, Hester Sival, Deborah A Haucke, Volker Kriwinsky, Josh Knaup, Karl X Reis, André Hauer, Nadine N Hirsch, Emilio Roepman, Ronald Pfundt, Rolph Thiel, Christian T Wiesener, Michael S Aslanyan, Mariam G Buchner, David A Producer: 20190930 In: PLoS genetics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	52.	Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1. [electronic resource] by Mistry, Pramod K Balwani, Manisha Baris, Hagit N Turkia, Hadhami Ben Burrow, T Andrew Charrow, Joel Cox, Gerald F Danda, Sumita Dragosky, Marta Drelichman, Guillermo El-Beshlawy, Amal Fraga, Cristina Freisens, Selena Gaemers, Sebastiaan Hadjiev, Evgueniy Kishnani, Priya S Lukina, Elena Maison-Blanche, Pierre Martins, Ana Maria Pastores, Gregory Petakov, Milan Peterschmitt, M Judith Rosenbaum, Hanna Rosenbloom, Barry Underhill, Lisa H Cox, Timothy M Producer: 20190218 In: Blood cells, molecules & diseases vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	53.	Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1. [electronic resource] by Mistry, Pramod K Balwani, Manisha Baris, Hagit N Turkia, Hadhami Ben Burrow, T Andrew Charrow, Joel Cox, Gerald F Danda, Sumita Dragosky, Marta Drelichman, Guillermo El-Beshlawy, Amal Fraga, Cristina Freisens, Selena Gaemers, Sebastiaan Hadjiev, Evgueniy Kishnani, Priya S Lukina, Elena Maison-Blanche, Pierre Martins, Ana Maria Pastores, Gregory Petakov, Milan Peterschmitt, M Judith Rosenbaum, Hanna Rosenbloom, Barry Underhill, Lisa H Cox, Timothy M Producer: 20200114 In: Blood cells, molecules & diseases vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	54.	Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium. [electronic resource] by Aronson, Melyssa Gallinger, Steven Cohen, Zane Cohen, Shlomi Dvir, Rina Elhasid, Ronit Baris, Hagit N Kariv, Revital Druker, Harriet Chan, Helen Ling, Simon C Kortan, Paul Holter, Spring Semotiuk, Kara Malkin, David Farah, Roula Sayad, Alain Heald, Brandie Kalady, Matthew F Penney, Lynette S Rideout, Andrea L Rashid, Mohsin Hasadsri, Linda Pichurin, Pavel Riegert-Johnson, Douglas Campbell, Brittany Bakry, Doua Al-Rimawi, Hala Alharbi, Qasim Kholaif Alharbi, Musa Shamvil, Ashraf Tabori, Uri Durno, Carol Producer: 20160627 In: The American journal of gastroenterology vol. 111 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	55.	WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects. [electronic resource] by Yokote, Koutaro Chanprasert, Sirisak Lee, Lin Eirich, Katharina Takemoto, Minoru Watanabe, Aki Koizumi, Naoko Lessel, Davor Mori, Takayasu Hisama, Fuki M Ladd, Paula D Angle, Brad Baris, Hagit Cefle, Kivanc Palanduz, Sukru Ozturk, Sukru Chateau, Antoinette Deguchi, Kentaro Easwar, T K M Federico, Antonio Fox, Amy Grebe, Theresa A Hay, Beverly Nampoothiri, Sheela Seiter, Karen Streeten, Elizabeth Piña-Aguilar, Raul E Poke, Gemma Poot, Martin Posmyk, Renata Martin, George M Kubisch, Christian Schindler, Detlev Oshima, Junko Producer: 20180112 In: Human mutation vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	56.	Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. [electronic resource] by Tischfield, Max A Baris, Hagit N Wu, Chen Rudolph, Guenther Van Maldergem, Lionel He, Wei Chan, Wai-Man Andrews, Caroline Demer, Joseph L Robertson, Richard L Mackey, David A Ruddle, Jonathan B Bird, Thomas D Gottlob, Irene Pieh, Christina Traboulsi, Elias I Pomeroy, Scott L Hunter, David G Soul, Janet S Newlin, Anna Sabol, Louise J Doherty, Edward J de Uzcátegui, Clara E de Uzcátegui, Nicolas Collins, Mary Louise Z Sener, Emin C Wabbels, Bettina Hellebrand, Heide Meitinger, Thomas de Berardinis, Teresa Magli, Adriano Schiavi, Costantino Pastore-Trossello, Marco Koc, Feray Wong, Agnes M Levin, Alex V Geraghty, Michael T Descartes, Maria Flaherty, Maree Jamieson, Robyn V Møller, H U Meuthen, Ingo Callen, David F Kerwin, Janet Lindsay, Susan Meindl, Alfons Gupta, Mohan L Pellman, David Engle, Elizabeth C Producer: 20100204 In: Cell vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	57.	Pathogenic variants in glutamyl-tRNA [electronic resource] by Friederich, Marisa W Timal, Sharita Powell, Christopher A Dallabona, Cristina Kurolap, Alina Palacios-Zambrano, Sara Bratkovic, Drago Derks, Terry G J Bick, David Bouman, Katelijne Chatfield, Kathryn C Damouny-Naoum, Nadine Dishop, Megan K Falik-Zaccai, Tzipora C Fares, Fuad Fedida, Ayalla Ferrero, Ileana Gallagher, Renata C Garesse, Rafael Gilberti, Micol González, Cristina Gowan, Katherine Habib, Clair Halligan, Rebecca K Kalfon, Limor Knight, Kaz Lefeber, Dirk Mamblona, Laura Mandel, Hanna Mory, Adi Ottoson, John Paperna, Tamar Pruijn, Ger J M Rebelo-Guiomar, Pedro F Saada, Ann Sainz, Bruno Salvemini, Hayley Schoots, Mirthe H Smeitink, Jan A Szukszto, Maciej J Ter Horst, Hendrik J van den Brandt, Frans van Spronsen, Francjan J Veltman, Joris A Wartchow, Eric Wintjes, Liesbeth T Zohar, Yaniv Fernández-Moreno, Miguel A Baris, Hagit N Donnini, Claudia Minczuk, Michal Rodenburg, Richard J Van Hove, Johan L K Producer: 20190107 In: Nature communications vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)