Bilaketaren emaitzak - Selvin Kumar
- Erakusten 1 - 3 emaitzak -- 3
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1
Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract nork Asaf Vivante, Daw‐Yang Hwang, Stefan Kohl, Jing Chen, Shirlee Shril, Julian Schulz, Amelie van der Ven, Ghaleb H. Daouk, Neveen A. Soliman, Aravind Selvin Kumar, Prabha Senguttuvan, Elijah O. Kehinde, Velibor Tasić, Friedhelm Hildebrandt
Argitaratua 2016Artigo -
2
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment nork Shazia Ashraf, Hiroki Kudo, Jia Rao, Atsuo Kikuchi, Eugen Widmeier, Jennifer A. Lawson, Weizhen Tan, Tobias Hermle, Jillian K. Warejko, Shirlee Shril, Merlin Airik, Tilman Jobst‐Schwan, Svjetlana Lovric, Daniela A. Braun, Heon Yung Gee, David Schapiro, Amar J. Majmundar, Carolin E. Sadowski, Werner L. Pabst, Ankana Daga, Amelie T. van der Ven, Johanna Magdalena Schmidt, Boon Chuan Low, Anjali Bansal Gupta, Brajendra K. Tripathi, Jenny Wong, Kirk N. Campbell, Kay Metcalfe, Denny Schanze, Tetsuya Niihori, Hiroshi Kaito, Kandai Nozu, Hiroyasu Tsukaguchi, Ryojiro Tanaka, Kiyoshi Hamahira, Yasuko Kobayashi, Takumi Takizawa, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Naonori Kumagai, Kazumoto Iijima, Henry Fehrenbach, Jameela A. Kari, Sherif El Desoky, Sawsan M. Jalalah, Radovan Bogdanović, Nataša Stajić, H. Zappel, Assel Rakhmetova, Sharon-Rose Wassmer, Therese Jungraithmayr, J. Strehlau, Aravind Selvin Kumar, Arvind Bagga, Neveen A. Soliman, Shrikant Mane, Lewis Kaufman, Douglas R. Lowy, Mohamad Aman Jairajpuri, Richard P. Lifton, York Pei, Martin Zenker, Shigeo Kure, Friedhelm Hildebrandt
Argitaratua 2018Artigo -
3
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations nork Dervla M. Connaughton, Rufeng Dai, Danielle Owen, Jonathan Marquez, Nina Mann, Adda L. Graham-Paquin, Makiko Nakayama, Étienne Coyaud, Estelle Laurent, Jonathan St‐Germain, Lot Snijders Blok, Arianna Vino, Verena Klämbt, Konstantin Deutsch, Chen-Han Wilfred Wu, Caroline M. Kolvenbach, Franziska Kause, Isabel Ottlewski, Ronen Schneider, Thomas M. Kitzler, Amar J. Majmundar, Florian Buerger, Ana C. Onuchic-Whitford, Youying Mao, Amy Kolb, Daanya Salmanullah, Evan Chen, Amelie T. van der Ven, Jia Rao, Hadas Ityel, Steve Seltzsam, Johanna M. Rieke, Jing Chen, Asaf Vivante, Daw‐Yang Hwang, Stefan Kohl, Gabriel C. Dworschak, Tobias Hermle, Mariëlle Alders, Tobias Bartolomaeus, Stuart B. Bauer, Michelle A. Baum, Eva H. Brilstra, Thomas D. Challman, Jacob Zyskind, Carrie E. Costin, Katrina M. Dipple, Floor A.M. Duijkers, Marcia Ferguson, David Fitzpatrick, Roger Fick, Ian Glass, Peter J. Hulick, Antonie D. Kline, Ilona Krey, Selvin Kumar, Lu W, Elysa J. Marco, Ingrid M. Wentzensen, Heather C. Mefford, Konrad Platzer, Inna Povolotskaya, Juliann M. Savatt, Н. В. Щербакова, Prabha Senguttuvan, Audrey Squire, Deborah R. Stein, Isabelle Thiffault, V. Yu. Voinova, Michael J. Somers, Michael A. Ferguson, Avram Z. Traum, Ghaleb H. Daouk, Ankana Daga, Nancy Rodig, Paulien A. Terhal, Ellen van Binsbergen, Loai Eid, Velibor Tasić, Hila Milo Rasouly, Tze Y. Lim, Dina Ahram, Ali G. Gharavi, Heiko Reutter, Heidi L. Rehm, Daniel G. MacArthur, Monkol Lek, Kristen M. Laricchia, Richard P. Lifton, Hong Xu, Shrikant Mane, Simone Sanna‐Cherchi, Andrew D. Sharrocks, Brian Raught, Simon E. Fisher, Maxime Bouchard, Mustafa K. Khokha, Shirlee Shril, Friedhelm Hildebrandt
Argitaratua 2020Artigo
Bilaketa egiteko lanabesak:
Antzeko gaiak
Biology
Gene
Genetics
Medicine
Phenotype
CDC42
Cancer research
Cell biology
Consanguinity
Context (archaeology)
Corepressor
Disease
Disease gene identification
Endocrinology
Etiology
Exome sequencing
GTPase
Gene knockdown
Guanine nucleotide exchange factor
Internal medicine
Mutant
Nephrosis
Nephrotic syndrome
Paleontology
Pathology
Pediatrics
Phenocopy
RHOA
Repressor
Signal transduction