Resultados da busca - Vivante, Asaf

Exome Sequencing Frequently Reveals the Cause of Early-Onset Chronic Kidney Disease por Vivante, Asaf, Hildebrandt, Friedhelm

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Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract por van der Ven, Amelie T., Vivante, Asaf, Hildebrandt, Friedhelm

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TRMT10A Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic Kidneys por Stern, Eve, Vivante, Asaf, Barel, Ortal, Levy-Shraga, Yael

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A Human Integrin-α3 Mutation Confers Major Renal Developmental Defects por Shukrun, Rachel, Vivante, Asaf, Pleniceanu, Oren, Vax, Einav, Anikster, Yair, Dekel, Benjamin, Lotan, Danny

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Body Mass Index in 1.2 Million Adolescents and Risk for End-Stage Renal Disease por Vivante, Asaf, Golan, Eliezer, Tzur, Dorit, Leiba, Adi, Tirosh, Amir, Skorecki, Karl, Calderon-Margalit, Ronit

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Etiology and long-term outcome of extrahepatic portal vein obstruction in children por Weiss, Batia, Shteyer, Eyal, Vivante, Asaf, Berkowitz, Drora, Reif, Shimon, Weizman, Zvi, Bujanover, Yoram, Shapiro, Rivka

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SAT-244 The Association between Obesity and Secular Trend of Stature: A Nationwide Study of 2.8 Million Adolescents over Five Decades por Pinhas-Hamiel, Orit, Geva, Neta, Reichman, Brian, Derazne, Estela, Vivante, Asaf, Yair, Barak, Afek, Arnon, Tirosh, Amir, Twig, Gilad

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Dominant PAX2 mutations may cause steroid resistant neprotic syndrome and FSGS in children por Vivante, Asaf, Chacham, Orna, Shril, Shirlee, Schreiber, Ruth, Soliman, Neveen A., Koneth, Irene, Schiffer, Mario, Anikster, Yair, Hildebrandt, Friedhelm

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Hereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial phenotypic variability and early childhood refusal to walk as the presenting symptom por Karklinsky, Shani, Kugler, Shir, Bar-Yosef, Omer, Nissenkorn, Andreea, Grossman-Jonish, Anat, Tirosh, Irit, Vivante, Asaf, Pode-Shakked, Ben

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Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report por van der Ven, Amelie T., Shril, Shirlee, Ityel, Hadas, Vivante, Asaf, Chen, Jing, Hwang, Daw-Yang, Laricchia, Kristen M., Lek, Monkol, Tasic, Velibor, Hildebrandt, Friedhelm

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Childhood Cancer and the Risk of ESKD por Calderon-Margalit, Ronit, Pleniceanu, Oren, Tzur, Dorit, Stern-Zimmer, Michal, Afek, Arnon, Erlich, Tomer, Verhovsky, Guy, Keinan-Boker, Lital, Skorecki, Karl, Twig, Gilad, Vivante, Asaf

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Mortality risk factors associated with familial Mediterranean fever among a cohort of 1.25 million adolescents por Twig, Gilad, Livneh, Avi, Vivante, Asaf, Afek, Arnon, Shamiss, Ari, Derazne, Estela, Tzur, Dorit, Ben-Zvi, Ilan, Tirosh, Amir, Barchana, Micha, Shohat, Tamy, Golan, Eliezer, Amital, Howard

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Potential antigenic cross-reactivity between SARS-CoV-2 and Dengue viruses por Lustig, Yaniv, Keler, Shlomit, Kolodny, Rachel, Ben-Tal, Nir, Atias-Varon, Danit, Shlush, Ekaterina, Gerlic, Motti, Munitz, Ariel, Doolman, Ram, Asraf, Keren, Shlush, Liran I, Vivante, Asaf

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Congenital Anomalies of the Kidney and Urinary Tract and Adulthood risk of Urinary Tract Cancer por Calderon-Margalit, Ronit, Efron, Gil, Pleniceanu, Oren, Tzur, Dorit, Stern-Zimmer, Michal, Afek, Arnon, Erlich, Tomer, Derazne, Estela, Kark, Jeremy D., Keinan-Boker, Lital, Twig, Gilad, Vivante, Asaf

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Mild Recessive Mutations in Six Fraser Syndrome–Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract por Kohl, Stefan, Hwang, Daw-Yang, Dworschak, Gabriel C., Hilger, Alina C., Saisawat, Pawaree, Vivante, Asaf, Stajic, Natasa, Bogdanovic, Radovan, Reutter, Heiko M., Kehinde, Elijah O., Tasic, Velibor, Hildebrandt, Friedhelm

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Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract por Hwang, Daw-Yang, Dworschak, Gabriel C., Kohl, Stefan, Saisawat, Pawaree, Vivante, Asaf, Hilger, Alina C., Reutter, Heiko M., Soliman, Neveen A., Bogdanovic, Radovan, Kehinde, Elijah O., Tasic, Velibor, Hildebrandt, Friedhelm

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Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature por Pode-Shakked, Ben, Vivante, Asaf, Barel, Ortal, Padeh, Shai, Marek-Yagel, Dina, Veber, Alvit, Abudi, Shachar, Eliyahu, Aviva, Tirosh, Irit, Shpilman, Shiri, Shril, Shirlee, Hildebrandt, Friedhelm, Shohat, Mordechai, Anikster, Yair

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Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome por Ta-Shma, Asaf, Khan, Tahir N., Vivante, Asaf, Willer, Jason R., Matak, Pavle, Jalas, Chaim, Pode-Shakked, Ben, Salem, Yishay, Anikster, Yair, Hildebrandt, Friedhelm, Katsanis, Nicholas, Elpeleg, Orly, Davis, Erica E.

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Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome por Staretz-Chacham, Orna, Shukrun, Rachel, Barel, Ortal, Pode-Shakked, Ben, Pleniceanu, Oren, Anikster, Yair, Shalva, Nechama, Ferreira, Carlos R., Kadosh, Admit Ben-Haim, Richardson, Justin, Mane, Shrikant M., Hildebrandt, Friedhelm, Vivante, Asaf

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Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract por Vivante, Asaf, Hwang, Daw-Yang, Kohl, Stefan, Chen, Jing, Shril, Shirlee, Schulz, Julian, van der Ven, Amelie, Daouk, Ghaleb, Soliman, Neveen A., Kumar, Aravind Selvin, Senguttuvan, Prabha, Kehinde, Elijah O., Tasic, Velibor, Hildebrandt, Friedhelm

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