Results
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301.
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ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. [electronic resource] by
- Gee, Heon Yung
- Saisawat, Pawaree
- Ashraf, Shazia
- Hurd, Toby W
- Vega-Warner, Virginia
- Fang, Humphrey
- Beck, Bodo B
- Gribouval, Olivier
- Zhou, Weibin
- Diaz, Katrina A
- Natarajan, Sivakumar
- Wiggins, Roger C
- Lovric, Svjetlana
- Chernin, Gil
- Schoeb, Dominik S
- Ovunc, Bugsu
- Frishberg, Yaacov
- Soliman, Neveen A
- Fathy, Hanan M
- Goebel, Heike
- Hoefele, Julia
- Weber, Lutz T
- Innis, Jeffrey W
- Faul, Christian
- Han, Zhe
- Washburn, Joseph
- Antignac, Corinne
- Levy, Shawn
- Otto, Edgar A
- Hildebrandt, Friedhelm
Producer: 20131022
In:
The Journal of clinical investigation vol. 123
Availability: No items available.
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302.
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Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. [electronic resource] by
- Daga, Ankana
- Majmundar, Amar J
- Braun, Daniela A
- Gee, Heon Yung
- Lawson, Jennifer A
- Shril, Shirlee
- Jobst-Schwan, Tilman
- Vivante, Asaf
- Schapiro, David
- Tan, Weizhen
- Warejko, Jillian K
- Widmeier, Eugen
- Nelson, Caleb P
- Fathy, Hanan M
- Gucev, Zoran
- Soliman, Neveen A
- Hashmi, Seema
- Halbritter, Jan
- Halty, Margarita
- Kari, Jameela A
- El-Desoky, Sherif
- Ferguson, Michael A
- Somers, Michael J G
- Traum, Avram Z
- Stein, Deborah R
- Daouk, Ghaleb H
- Rodig, Nancy M
- Katz, Avi
- Hanna, Christian
- Schwaderer, Andrew L
- Sayer, John A
- Wassner, Ari J
- Mane, Shrikant
- Lifton, Richard P
- Milosevic, Danko
- Tasic, Velibor
- Baum, Michelle A
- Hildebrandt, Friedhelm
Producer: 20181211
In:
Kidney international vol. 93
Availability: No items available.
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303.
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Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies. [electronic resource] by
- Gee, Heon Yung
- Otto, Edgar A
- Hurd, Toby W
- Ashraf, Shazia
- Chaki, Moumita
- Cluckey, Andrew
- Vega-Warner, Virginia
- Saisawat, Pawaree
- Diaz, Katrina A
- Fang, Humphrey
- Kohl, Stefan
- Allen, Susan J
- Airik, Rannar
- Zhou, Weibin
- Ramaswami, Gokul
- Janssen, Sabine
- Fu, Clementine
- Innis, Jamie L
- Weber, Stefanie
- Vester, Udo
- Davis, Erica E
- Katsanis, Nicholas
- Fathy, Hanan M
- Jeck, Nikola
- Klaus, Gunther
- Nayir, Ahmet
- Rahim, Khawla A
- Al Attrach, Ibrahim
- Al Hassoun, Ibrahim
- Ozturk, Savas
- Drozdz, Dorota
- Helmchen, Udo
- O'Toole, John F
- Attanasio, Massimo
- Lewis, Richard A
- Nürnberg, Gudrun
- Nürnberg, Peter
- Washburn, Joseph
- MacDonald, James
- Innis, Jeffrey W
- Levy, Shawn
- Hildebrandt, Friedhelm
Producer: 20141209
In:
Kidney international vol. 85
Availability: No items available.
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304.
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Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. [electronic resource] by
- Braun, Daniela A
- Lovric, Svjetlana
- Schapiro, David
- Schneider, Ronen
- Marquez, Jonathan
- Asif, Maria
- Hussain, Muhammad Sajid
- Daga, Ankana
- Widmeier, Eugen
- Rao, Jia
- Ashraf, Shazia
- Tan, Weizhen
- Lusk, C Patrick
- Kolb, Amy
- Jobst-Schwan, Tilman
- Schmidt, Johanna Magdalena
- Hoogstraten, Charlotte A
- Eddy, Kaitlyn
- Kitzler, Thomas M
- Shril, Shirlee
- Moawia, Abubakar
- Schrage, Kathrin
- Khayyat, Arwa Ishaq A
- Lawson, Jennifer A
- Gee, Heon Yung
- Warejko, Jillian K
- Hermle, Tobias
- Majmundar, Amar J
- Hugo, Hannah
- Budde, Birgit
- Motameny, Susanne
- Altmüller, Janine
- Noegel, Angelika Anna
- Fathy, Hanan M
- Gale, Daniel P
- Waseem, Syeda Seema
- Khan, Ayaz
- Kerecuk, Larissa
- Hashmi, Seema
- Mohebbi, Nilufar
- Ettenger, Robert
- Serdaroğlu, Erkin
- Alhasan, Khalid A
- Hashem, Mais
- Goncalves, Sara
- Ariceta, Gema
- Ubetagoyena, Mercedes
- Antonin, Wolfram
- Baig, Shahid Mahmood
- Alkuraya, Fowzan S
- Shen, Qian
- Xu, Hong
- Antignac, Corinne
- Lifton, Richard P
- Mane, Shrikant
- Nürnberg, Peter
- Khokha, Mustafa K
- Hildebrandt, Friedhelm
Producer: 20190911
In:
The Journal of clinical investigation vol. 128
Availability: No items available.
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305.
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Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. [electronic resource] by
- van der Ven, Amelie T
- Connaughton, Dervla M
- Ityel, Hadas
- Mann, Nina
- Nakayama, Makiko
- Chen, Jing
- Vivante, Asaf
- Hwang, Daw-Yang
- Schulz, Julian
- Braun, Daniela A
- Schmidt, Johanna Magdalena
- Schapiro, David
- Schneider, Ronen
- Warejko, Jillian K
- Daga, Ankana
- Majmundar, Amar J
- Tan, Weizhen
- Jobst-Schwan, Tilman
- Hermle, Tobias
- Widmeier, Eugen
- Ashraf, Shazia
- Amar, Ali
- Hoogstraaten, Charlotte A
- Hugo, Hannah
- Kitzler, Thomas M
- Kause, Franziska
- Kolvenbach, Caroline M
- Dai, Rufeng
- Spaneas, Leslie
- Amann, Kassaundra
- Stein, Deborah R
- Baum, Michelle A
- Somers, Michael J G
- Rodig, Nancy M
- Ferguson, Michael A
- Traum, Avram Z
- Daouk, Ghaleb H
- Bogdanović, Radovan
- Stajić, Natasa
- Soliman, Neveen A
- Kari, Jameela A
- El Desoky, Sherif
- Fathy, Hanan M
- Milosevic, Danko
- Al-Saffar, Muna
- Awad, Hazem S
- Eid, Loai A
- Selvin, Aravind
- Senguttuvan, Prabha
- Sanna-Cherchi, Simone
- Rehm, Heidi L
- MacArthur, Daniel G
- Lek, Monkol
- Laricchia, Kristen M
- Wilson, Michael W
- Mane, Shrikant M
- Lifton, Richard P
- Lee, Richard S
- Bauer, Stuart B
- Lu, Weining
- Reutter, Heiko M
- Tasic, Velibor
- Shril, Shirlee
- Hildebrandt, Friedhelm
Producer: 20190910
In:
Journal of the American Society of Nephrology : JASN vol. 29
Availability: No items available.
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