All papers authored by Friedhelm Hildebrandt
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,
Luca Schierbaum,
Wessel A. C. Burger,
Steve Seltzsam,
Chunyan Wang,
Bixia Zheng,
Chen‐Han Wilfred Wu,
Makiko Nakayama,
Dervla M. Connaughton,
Nina Mann,
Mohamed A. Shalaby,
Jameela A. Kari,
Sherif ElDesoky,
Velibor Tasic,
Loai A. Eid
and 3 other authors
Recessive CHRM5 variant as a potential cause of neurogenic bladder
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OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis
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Florian Buerger ,
Thomas A. Forbes ,
Verena Klämbt,
Ronen Schneider ,
Konstantin Deutsch ,
Thomas M. Kitzler,
Sara E. Howden,
Michelle Scurr,
Ker Sin Tan,
Mickaël Krzeminski,
Eugen Widmeier ,
Daniela A. Braun,
Ethan Lai,
Ihsan Ullah
and 24 other authors
Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice
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N. Weaver ,
K. Alhasan ,
E. Gumus ,
B. R. Sullivan ,
M. Zenker ,
F. Hildebrandt ,
J. D. Saba
MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome
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,
Julie Patat ,
Giulia Menara,
Bruno Collinet ,
Dominique Liger,
Dominique Durand ,
Olivier Gribouval ,
Olivia Boyer ,
Laurine Buscara,
Gaëlle Martin,
Eduardo Machuca,
Fabien Nevo,
Ewen Lescop
and 22 other authors
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
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,
Fatima-Zahra Laarabi,
Yassine Lamsyah,
Hamza Elorch
and 17 other authors
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Rik Westland,
Alejandra Perez,
Krzysztof Kiryluk,
Qingxue Liu,
Priya Krithivasan,
Adele Mitrotti,
David A. Fasel ,
Ekaterina Batourina,
Matthew G. Sampson ,
Monica Bodria,
Max Werth,
Charlly Kao,
Jeremiah Martino,
Valentina P. Capone
and 75 other authors
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
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Tilman Jobst-Schwan,
Eugen Widmeier ,
Amar J. Majmundar,
Ankana Daga,
Jillian K. Warejko,
Makiko Nakayama,
David Schapiro,
Jing Chen
and 10 other authors
Mutations in WDR4 as a new cause of Galloway-Mowat syndrome
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,
Friedhelm Hildebrandt ,
Carsten Bergmann,
John A. Sayer
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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
and 50 other authors
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
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,
Won-Il Choi,
Hye-Youn Kim,
Seyoung Yu,
Joon Suk Lee,
John Hoon Rim,
Min Goo Lee,
Friedhelm Hildebrandt ,
Heon Yung Gee
ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms
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,
Mary Taglienti,
Johanna Magdalena Schmidt
and 13 other authors
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,
David Schapiro,
Marie-Claire Daugeron,
Weizhen Tan,
Olivier Gribouval ,
Olivia Boyer,
Patrick Revy,
Tilman Jobst-Schwan,
Johanna Magdalena Schmidt,
Jennifer A. Lawson,
Denny Schanze ,
Shazia Ashraf,
Jeremy F. P. Ullmann
and 87 other authors
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
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