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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 24, 2025. (Total: 235644Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Syndrome and NPHP4[original query]
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
Human mutation 2005 Apr 25 (4): 411.
Hoefele Julia, Sudbrak Ralf, Reinhardt Richard, Lehrack Silvia, Hennig Steffen, Imm Anita, Muerb Ulla, Utsch Boris, Attanasio Massimo, O'Toole John F, Otto Edgar, Hildebrandt Friedhe
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Journal of medical genetics 2011 Feb 48 (2): 105-16.
Otto Edgar A, Ramaswami Gokul, Janssen Sabine, Chaki Moumita, Allen Susan J, Zhou Weibin, Airik Rannar, Hurd Toby W, Ghosh Amiya K, Wolf Matthias T, Hoppe Bernd, Neuhaus Thomas J, Bockenhauer Detlef, Milford David V, Soliman Neveen A, Antignac Corinne, Saunier Sophie, Johnson Colin A, Hildebrandt Friedhelm,
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
American journal of human genetics 2016 Aug 99 (2): 318-36.
Lindstrand Anna, Frangakis Stephan, Carvalho Claudia M B, Richardson Ellen B, McFadden Kelsey A, Willer Jason R, Pehlivan Davut, Liu Pengfei, Pediaditakis Igor L, Sabo Aniko, Lewis Richard Alan, Banin Eyal, Lupski James R, Davis Erica E, Katsanis Nichol
Association of Nephronophthisis 4 genetic variation with cardiorenal syndrome and cardiovascular events in Japanese general population: the Yamagata (Takahata) study.
Heart and vessels 2021 Sep .
Otaki Yoichiro, Watanabe Tetsu, Sato Junya, Kobayashi Yuta, Aono Tomonori, Saito Yuji, Goto Jun, Takahashi Hiroki, Arimoto Takanori, Sato Hidenori, Konta Tsuneo, Ueno Yoshiyuki, Watanabe Masafu
Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure.
Kidney international reports 2023 10 8 (10): 2126-2135.
Yishay Ben-Moshe, Omer Shlomovitz, Danit Atias-Varon, Orly Haskin, Efrat Ben-Shalom, Hadas Shasha Lavsky, Oded Volovelsky, Shrikant Mane, Dror Ben-Ruby, Guy Chowers, Karl Skorecki, Yael Borovitz, Maayan Kagan, Nofar Mor, Yulia Khavkin, Shimrit Tzvi-Behr, Shirley Pollack, Moran Plonsky Toder, Michael Geylis, Aviad Schnapp, Rachel Becker-Cohen, Irith Weissman, Ruth Schreiber, Miriam Davidovits, Yaacov Frishberg, Daniella Magen, Ortal Barel, Asaf Vivan
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