Bibliografia UJ CM

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Luca M. Schierbaum, Sophia Schneider, Stefan Herms, Sugirthan Sivalingam, Julia Fabian, Heiko Reutter, Stefanie Weber, Waltraut M. Merz, Marcin Tkaczyk, Monika Miklaszewska, Przemyslaw Sikora, Agnieszka Szmigielska, Grazyna Krzemien, Katarzyna Zachwieja, Maria Szczepanska, Katarzyna Taranta-Janusz, Pawel Kroll, Marcin Polok, Marcin Zaniew, Alina C. Hilger.
Genome-wide survey for microdeletions or -duplications in 155 patients with lower urinary tract obstructions (LUTO).
Genes
2021 : Vol. 12, nr 9, il., bibliogr. 25 poz., abstr.
Autor korespondencyjny: Alina C. Hilger.
Open Access Creative Commons Attribution License CC-BY 4.0.
e-ISSN: 2073-4425
AZ
ORG
AIF
IF: 4.141
Adres url:
Streszczenie w PubMed:
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Helen M. Stuart, Neil A. Roberts, Emma N. Hilton, Edward A. McKenzie, Sarah B. Daly, Kristen D. Hadfield, Jeffery S. Rahal, Natalie J. Gardiner, Simon W. Tanley, Malcolm A. Lewis, Emily Sites, Brad Angle, Claudia Alves, Teresa Lourenco, Marcia Rodrigues, Angelina Calado, Marta Amado, Nancy Guerreiro, Ines Serras, Christian Beetz, Rita-Eva Varga, Mesrur Selcuk Silay, John M. Darlow, Mark G. Dobson, David E. Barton, Manuela Hunziker, Prem Puri, Sally A. Feather, Judith A. Goodship, Timothy H.J. Goodship, Heather J. Lambert, Heather J. Cordell, UK VUR Study Group, Anand Saggar, Maria Kinali, 4C Study Group, Christian Lorenz, Kristina Moeller, Franz Schaefer, Aysun K. Bayazit, Stefanie Weber, William G. Newman, Adrian S. Woolf.
Urinary tract effects of HPSE2 mutations.
Journal of the American Society of Nephrology
2015 : Vol. 26, nr 4, s. 797-804, il., bibliogr. 29 poz., abstr.
p-ISSN: 1046-6673
AZ
ORG
AIF
IF: 8.491
Adres url:
Streszczenie w PubMed:
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Heon Yung Gee, Edgar A. Otto, Toby W. Hurd, Shazia Ashraf, Moumita Chaki, Andrew Cluckey, Virginia Vega-Warner, Pawaree Saisawat, Katrina A. Diaz, Humphrey Fang, Stefan Kohl, Susan J. Allen, Rannar Airik, Weibin Zhou, Gokul Ramaswami, Sabine Janssen, Clementine Fu, Jamie L. Innis, Stefanie Weber, Udo Vester, Erica E. Davis, Nicholas Katsanis, Hanan M. Fathy, Nikola Jeck, Gunther Klaus, Ahmet Nayir, Khawla A. Rahim, Ibrahim Al Attrach, Ibrahim Al Hassoun, Savas Ozturk, Dorota Drozdz, Udo Helmchen, John F. O'Toole, Massimo Attanasio, Richard A. Lewis, Gudrun Nurnberg, Peter Nurnberg, Joseph Washburn, James MacDonald, Jeffrey W. Innis, Shawn Levy, Friedhelm Hildebrandt.
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.
Kidney International
2014 : Vol. 85, nr 4, s. 880-887, il., bibliogr. 40 poz.
p-ISSN: 0085-2538
AZ
ORG
AIF
IF: 8.563
Adres url:
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Mansoureh Tabatabaeifar, Karl-Peter Schlingmann, Mieczyslaw Litwin, Sevinc Emre, Aysin Bakkaloglu, Otto Mehls, Corinne Antignac, Franz Schaefer, Stefanie Weber, ESCAPE Trial Group.
Functional analysis of BMP4 mutations identified in pediatric CAKUT patients.
Pediatric Nephrology
2009 : Vol. 24, nr 12, s. 2361-2368, il., bibliogr. 31 poz., abstr.
p-ISSN: 0931-041X
AZ
ORG
AIF
IF: 2.425
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