Bibliografia UJ CM

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Florian Recker, Marcin Zaniew, Detkef Bockenhauer, Nunzia Miglietti, Arend Bokenkamp, Anna Moczulska, Anna Rogowska-Kalisz, Guido Laube, Valerie Said-Conti, Belde Kasap-Demir, Anna Niemirska, Mieczysław Litwin, Grzegorz Siteń, Krystyna H. Chrzanowska, Małgorzata Krajewska-Walasek, Sidharth K. Sethi, Velibor Tasic, Franca Anglani, Maria Addis, Anna Wasilewska, Maria Szczepańska, Krzysztof Pawlaczyk, Przemysław Sikora, Michael Ludwig.
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.
Pediatric Nephrology
2015 : Vol. 30, nr 6, s. 931-943, il., bibliogr. 49 poz., abstr.
p-ISSN: 0931-041X
AZ
ORG
AIF
IF: 2.338
Streszczenie w PubMed:
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Edgar A. Otto, Gokul Ramaswami, Sabine Janssen, Moumita Chaki, Susan J. Allen, Weibin Zhou, Rannar Airik, Toby W. Hurd, Amiya K. Ghosh, Mstthias T. Wolff, Bernd Hoppe, Thomas J. Neuhaus, Detkef Bockenhauer, David V. Milford, Neveen A. Soliman, Corinne Antignac, Sophie Saunier, Colin A. Johnson, Friedhelm Hildebrandt, GPN Study Group.
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Journal of Medical Genetics
2011 : Vol. 48, nr 2, s. 105-116, il., bibliogr. 42 poz., abstr.
ISSN: 0022-2593
AZ
ORG
AIF
IF: 6.365
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