未登录Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation
Ziegler, Alban; Duclaux-Loras, Remi; Revenu, Celine; Charbit-Henrion, Fabienne; Begue, Bernadette; Duroure, Karine; Grimaud, Linda; Guihot, Anne Laure; Desquiret-Dumas, Valerie; Zarhrate, Mohammed; Cagnard, Nicolas; Mas, Emmanuel; Breton, Anne; Edouard, Thomas; Billon, Clarisse; Frank, Michael; Colin, Estelle; Lenaers, Guy; Henrion, Daniel; Lyonnet, Stanislas; Faivre, Laurence; Alembik, Yves; Philippe, Anais; Moulin, Bruno; Reinstein, Eyal; Tzur, Shay; Attali, Ruben; McGillivray, George; White, Susan M.; Gallacher, Lyndon; Kutsche, Kerstin; Schneeberger, Pauline; Girisha, Katta M.; Nayak, Shalini S.; Pais, Lynn; Maroofian, Reza; Rad, Aboulfazl; Vona, Barbara; Karimiani, Ehsan Ghayoor; Lekszas, Caroline; Haaf, Thomas; Martin, Ludovic; Ruemmele, Frank; Bonneau, Dominique; Cerf-Bensussan, Nadine; Del Bene, Filippo; Parlato, Marianna .png)
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收藏Mutations in HOGA1 do Not Confer a Dominant Phenotype Manifesting as Kidney Stone DiseaseBar, Roi; Ben-Shalom, Efrat; Duvdevani, Mordechai; Belostotsky, Ruth; Pollak, Martin R.; Mount, David B.; Bar-Gal, Ruth; Gnessin, Ehud; Tzur, Shay; Curhan, Gary C.; Frishberg, Yaacov 分享 收藏 Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disabilityLi, Lin; Ghorbani, Mohammad; Weisz-Hubshman, Monika; Rousseau, Justine; Thiffault, Isabelle; Schnur, Rhonda E.; Breen, Catherine; Oegema, Renske; Weiss, Marjan M. M.; Waisfisz, Quinten; Welner, Sara; Kingston, Helen; Hills, Jordan A.; Boon, Elles M. J.; Basel-Salmon, Lina; Konen, Osnat; Goldberg-Stern, Hadassa; Bazak, Lily; Tzur, Shay; Jin, Jianliang; Bi, Xiuli; Bruccoleri, Michael; McWalter, Kirsty; Cho, Megan T.; Scarano, Maria; Schaefer, G. Bradley; Brooks, Susan S.; Hughes, Susan Starling; van Gassen, K. L., I; van Hagen, Johanna M.; Pandita, Tej K.; Agrawal, Pankaj B.; Campeau, Philippe M.; Yang, Xiang-Jiao 分享 收藏 Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of LiteratureShalata, Adel; Edery, Michael; Habib, Clair; Genizi, Jacob; Mahroum, Mohammad; Khalaily, Lama; Assaf, Nurit; Segal, Idan; El Rahim, Hoda Abed; Shapira, Hana; Urian, Danielle; Tzur, Shay; Douiev, Liza; Saada, Ann 分享 收藏 Gain-of-function mutation of microRNA-140 in human skeletal dysplasiaGrigelioniene, 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; Hammarsjo, Anna; Marsk, Elin; Nordgren, Ann; Nordenskjold, Magnus; Eyre, David R.; Warman, Matthew L.; Nishimura, Gen; Sharp, Phillip A.; Kobayashi, Tatsuya 分享 收藏 分享 收藏 Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and bloodShalata, Adel; Lauhasurayotin, Supanun; Leibovitz, Zvi; Li, Hongbing; Hebert, Diane; Dhanraj, Santhosh; Hadid, Yarin; Mahroum, Mohammed; Bajar, Jacob; Egenburg, Sandro; Arad, Ayala; Shohat, Mordechai; Haddad, Sami; Bakry, Hassan; Moshiri, Houtan; Scherer, Stephen W.; Tzur, Shay; Dror, Yigal 分享 收藏 Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardationShohet, Adi; Cohen, Lior; Haguel, Danielle; Mozer, Yael; Shomron, Noam; Tzur, Shay; Bazak, Lily; Salmon, Lina Basel; Krause, Irit 分享 收藏 Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosaHubshman, Monika Weisz; Broekman, Sanne; van Wijk, Erwin; Cremers, Frans; Abu-Diab, Alaa; Khateb, Samer; Tzur, Shay; Lagovsky, Irina; Smirin-Yosef, Pola; Sharon, Dror; Haer-Wigman, Lonneke; Banin, Eyal; Basel-Vanagaite, Lina; de Vrieze, Erik 分享 收藏 The genetic variation in the R1a clade among the Ashkenazi Levites' Y chromosomeBehar, Doron M.; Saag, Lauri; Karmin, Monika; Gover, Meir G.; Wexler, Jeffrey D.; Sanchez, Luisa Fernanda; Greenspan, Elliott; Kushniarevich, Alena; Davydenko, Oleg; Sahakyan, Hovhannes; Yepiskoposyan, Levon; Boattini, Alessio; Sarno, Stefania; Pagani, Luca; Carmi, Shai; Tzur, Shay; Metspalu, Ene; Bormans, Concetta; Skorecki, Karl; Metspalu, Mait; Rootsi, Siiri; Villems, Richard 分享 收藏 分享 收藏 Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcificationsJanecke, Andreas R.; Xu, Ruijuan; Steichen-Gersdorf, Elisabeth; Waldegger, Siegfried; Entenmann, Andreas; Giner, Thomas; Krainer, Iris; Huber, Lukas A.; Hess, Michael W.; Frishberg, Yaacov; Barash, Hila; Tzur, Shay; Schreyer-Shafir, Nira; Sukenik-Halevy, Rivka; Zehavi, Tania; Raas-Rothschild, Annick; Mao, Cungui; Mueller, Thomas 分享 收藏 A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal DysgenesisSmirin-Yosef, Pola; Zuckerman-Levin, Nehama; Tzur, Shay; Granot, Yaron; Cohen, Lior; Sachsenweger, Juliane; Borck, Guntram; Lagovsky, Irina; Salmon-Divon, Mali; Wiesmueller, Lisa; Basel-Vanagaite, Lina 分享 收藏 Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin CReinstein, Eyal; Gutierrez-Fernandez, Ana; Tzur, Shay; Bormans, Concetta; Marcu, Shai; Tayeb-Fligelman, Einav; Vinkler, Chana; Raas-Rothschild, Annick; Irge, Dana; Landau, Meytal; Shohat, Mordechai; Puente, Xose S.; Behar, Doron M.; Lopez-Otin, Carlos 分享 收藏 分享 收藏 Homozygous MED25 mutation implicated in eye-intellectual disability syndromeBasel-Vanagaite, Lina; Smirin-Yosef, Pola; Essakow, Jenna Lee; Tzur, Shay; Lagovsky, Irina; Maya, Idit; Pasmanik-Chor, Metsada; Yeheskel, Adva; Konen, Osnat; Orenstein, Naama; Hubshman, Monika Weisz; Drasinover, Valerie; Magal, Nurit; Amit, Gaby Peretz; Zalzstein, Yael; Zeharia, Avraham; Shohat, Mordechai; Straussberg, Rachel; Monte, Didier; Salmon-Divon, Mali; Behar, Doron M. 分享 收藏 Mutations in TAX1BP3 Cause Dilated Cardiomyopathy with Septo-Optic DysplasiaReinstein, Eyal; Orvin, Katia; Tayeb-Fligelman, Einav; Stiebel-Kalish, Hadas; Tzur, Shay; Pimienta, Allen L.; Bazak, Lily; Bengal, Tuvia; Cohen, Lior; Gaton, Dan D.; Bormans, Concetta; Landau, Meytal; Kornowski, Ran; Shohat, Mordechai; Behar, Doron M. 分享 收藏 Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5 (vol 134, pg 305, 2015)Magen, Daniella; Ofir, Ayala; Berger, Liron; Goldsher, Dorit; Eran, Ayelet; Katib, Nasser; Nijem, Yousif; Vlodavsky, Euvgeni; Tzur, Shay; Behar, Doron M.; Fellig, Yakov; Mandel, Hanna 分享 收藏 分享 收藏 Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiencyBehar, Doron M.; Basel-Vanagaite, Lina; Glaser, Fabian; Kaplan, Marielle; Tzur, Shay; Magal, Nurit; Eidlitz-Markus, Tal; Haimi-Cohen, Yishay; Sarig, Galit; Bormans, Concetta; Shohat, Mordechai; Zeharia, Avraham 分享 收藏 
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