Arama Sonuçları - Tzur, Shay

Big data analysis of human mitochondrial DNA substitution models: a regression approach Yazar: Levinstein Hallak, Keren, Tzur, Shay, Rosset, Saharon

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Linkage disequilibrium analysis reveals an albuminuria risk haplotype containing three missense mutations in the cubilin gene with striking differences among European and African a... Yazar: Tzur, Shay, Wasser, Walter G, Rosset, Saharon, Skorecki, Karl

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Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype Yazar: REINSTEIN, EYAL, TZUR, SHAY, BORMANS, CONCETTA, BEHAR, DORON M.

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Germline variant in REXO2 is a novel candidate gene in familial pheochromocytoma Yazar: Laitman, Yael, Tzur, Shay, Attai, Ruben, Tirosh, Amit, Friedman, Eitan

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Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing Yazar: Reinstein, Eyal, Tzur, Shay, Cohen, Rony, Bormans, Concetta, Behar, Doron M

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Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy Yazar: COHEN, LIOR, TZUR, SHAY, GOLDENBERG-COHEN, NITZA, BORMANS, CONCETTA, BEHAR, DORON M., REINSTEIN, EYAL

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Adaptation of Pelage Color and Pigment Variations in Israeli Subterranean Blind Mole Rats, Spalax Ehrenbergi Yazar: Singaravelan, Natarajan, Raz, Shmuel, Tzur, Shay, Belifante, Shirli, Pavlicek, Tomas, Beiles, Avigdor, Ito, Shosuke, Wakamatsu, Kazumasa, Nevo, Eviatar

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Correction: Adaptation of Pelage Color and Pigment Variations in Israeli Subterranean Blind Mole Rats, Spalax Ehrenbergi Yazar: Singaravelan, Natarajan, Raz, Shmuel, Tzur, Shay, Belifante, Shirli, Pavlicek, Tomas, Beiles, Avigdor, Ito, Shosuke, Wakamatsu, Kazumasa, Nevo, Eviatar

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Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation Yazar: Shohet, Adi, Cohen, Lior, Haguel, Danielle, Mozer, Yael, Shomron, Noam, Tzur, Shay, Bazak, Lily, Basel Salmon, Lina, Krause, Irit

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Possible incipient sympatric ecological speciation in blind mole rats (Spalax) Yazar: Hadid, Yarin, Tzur, Shay, Pavlíček, Tomáš, Šumbera, Radim, Šklíba, Jan, Lövy, Matěj, Fragman-Sapir, Ori, Beiles, Avigdor, Arieli, Ran, Raz, Shmuel, Nevo, Eviatar

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Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene Yazar: Tzur, Shay, Rosset, Saharon, Shemer, Revital, Yudkovsky, Guennady, Selig, Sara, Tarekegn, Ayele, Bekele, Endashaw, Bradman, Neil, Wasser, Walter G., Behar, Doron M., Skorecki, Karl

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APOL1 Risk Variants Predict Histopathology and Progression to ESRD in HIV-Related Kidney Disease Yazar: Fine, Derek M., Wasser, Walter G., Estrella, Michelle M., Atta, Mohamed G., Kuperman, Michael, Shemer, Revital, Rajasekaran, Arun, Tzur, Shay, Racusen, Lorraine C., Skorecki, Karl

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The Genographic Project Public Participation Mitochondrial DNA Database Yazar: Behar, Doron M, Rosset, Saharon, Blue-Smith, Jason, Balanovsky, Oleg, Tzur, Shay, Comas, David, Mitchell, R. John, Quintana-Murci, Lluis, Tyler-Smith, Chris, Wells, R. Spencer

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Correction: The Genographic Project Public Participation Mitochondrial DNA Database Yazar: M. Behar, Doron, Rosset, Saharon, Blue-Smith, Jason, Balanovsky, Oleg, Tzur, Shay, Comas, David, Mitchell, R. John, Quintana-Murci, Lluis, Tyler-Smith, Chris, Wells, R. Spencer

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A Novel 154-bp Deletion in the Human Mitochondrial DNA Control Region in Healthy Individuals Yazar: Behar, Doron M., Blue-Smith, Jason, Soria-Hernanz, David F., Tzur, Shay, Hadid, Yarin, Bormans, Concetta, Moen, Alexander, Tyler-Smith, Chris, Quintana-Murci, Lluis, Wells, R. Spencer

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African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans Yazar: Behar, Doron M., Rosset, Saharon, Tzur, Shay, Selig, Sara, Yudkovsky, Guennady, Bercovici, Sivan, Kopp, Jeffrey B., Winkler, Cheryl A., Nelson, George W., Wasser, Walter G., Skorecki, Karl

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Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency Yazar: Behar, 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

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Counting the Founders: The Matrilineal Genetic Ancestry of the Jewish Diaspora Yazar: Behar, Doron M., Metspalu, Ene, Kivisild, Toomas, Rosset, Saharon, Tzur, Shay, Hadid, Yarin, Yudkovsky, Guennady, Rosengarten, Dror, Pereira, Luisa, Amorim, Antonio, Kutuev, Ildus, Gurwitz, David, Bonne-Tamir, Batsheva, Villems, Richard, Skorecki, Karl

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Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C Yazar: Reinstein, 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-Otın, Carlos

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The Dawn of Human Matrilineal Diversity Yazar: Behar, Doron M., Villems, Richard, Soodyall, Himla, Blue-Smith, Jason, Pereira, Luisa, Metspalu, Ene, Scozzari, Rosaria, Makkan, Heeran, Tzur, Shay, Comas, David, Bertranpetit, Jaume, Quintana-Murci, Lluis, Tyler-Smith, Chris, Wells, R. Spencer, Rosset, Saharon

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