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A homozygous missense variant in CHRM3 associated with familial urinary bladder disease. [electronic resource] by
- Beaman, Glenda M
- Galatà, Gabriella
- Teik, Keng W
- Urquhart, Jill E
- Aishah, Ali
- O'Sullivan, James
- Bhaskar, Sanjeev S
- Wood, Katherine A
- Thomas, Huw B
- O'Keefe, Raymond T
- Woolf, Adrian S
- Stuart, Helen M
- Newman, William G
Producer: 20200831
In:
Clinical genetics vol. 96
Availability: No items available.
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7.
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Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease. [electronic resource] by
- Lennon, Rachel
- Stuart, Helen M
- Bierzynska, Agnieszka
- Randles, Michael J
- Kerr, Bronwyn
- Hillman, Katherine A
- Batra, Gauri
- Campbell, Joanna
- Storey, Helen
- Flinter, Frances A
- Koziell, Ania
- Welsh, Gavin I
- Saleem, Moin A
- Webb, Nicholas J A
- Woolf, Adrian S
Producer: 20160801
In:
Pediatric nephrology (Berlin, Germany) vol. 30
Availability: No items available.
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8.
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Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder. [electronic resource] by
- Roberts, Neil A
- Hilton, Emma N
- Lopes, Filipa M
- Singh, Subir
- Randles, Michael J
- Gardiner, Natalie J
- Chopra, Karl
- Coletta, Riccardo
- Bajwa, Zunera
- Hall, Robert J
- Yue, Wyatt W
- Schaefer, Franz
- Weber, Stefanie
- Henriksson, Roger
- Stuart, Helen M
- Hedman, Håkan
- Newman, William G
- Woolf, Adrian S
Producer: 20200402
In:
Kidney international vol. 95
Availability: No items available.
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9.
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Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. [electronic resource] by
- Weber, Stefanie
- Thiele, Holger
- Mir, Sevgi
- Toliat, Mohammad Reza
- Sozeri, Betül
- Reutter, Heiko
- Draaken, Markus
- Ludwig, Michael
- Altmüller, Janine
- Frommolt, Peter
- Stuart, Helen M
- Ranjzad, Parisa
- Hanley, Neil A
- Jennings, Rachel
- Newman, William G
- Wilcox, Duncan T
- Thiel, Uwe
- Schlingmann, Karl Peter
- Beetz, Rolf
- Hoyer, Peter F
- Konrad, Martin
- Schaefer, Franz
- Nürnberg, Peter
- Woolf, Adrian S
Producer: 20120221
In:
American journal of human genetics vol. 89
Availability: No items available.
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10.
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LRIG2 mutations cause urofacial syndrome. [electronic resource] by
- Stuart, Helen M
- Roberts, Neil A
- Burgu, Berk
- Daly, Sarah B
- Urquhart, Jill E
- Bhaskar, Sanjeev
- Dickerson, Jonathan E
- Mermerkaya, Murat
- Silay, Mesrur Selcuk
- Lewis, Malcolm A
- Olondriz, M Beatriz Orive
- Gener, Blanca
- Beetz, Christian
- Varga, Rita E
- Gülpınar, Omer
- Süer, Evren
- Soygür, Tarkan
- Ozçakar, Zeynep B
- Yalçınkaya, Fatoş
- Kavaz, Aslı
- Bulum, Burcu
- Gücük, Adnan
- Yue, Wyatt W
- Erdogan, Firat
- Berry, Andrew
- Hanley, Neil A
- McKenzie, Edward A
- Hilton, Emma N
- Woolf, Adrian S
- Newman, William G
Producer: 20130404
In:
American journal of human genetics vol. 92
Availability: No items available.
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11.
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Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. [electronic resource] by
- Kolvenbach, Caroline M
- Dworschak, Gabriel C
- Frese, Sandra
- Japp, Anna S
- Schuster, Peggy
- Wenzlitschke, Nina
- Yilmaz, Öznur
- Lopes, Filipa M
- Pryalukhin, Alexey
- Schierbaum, Luca
- van der Zanden, Loes F M
- Kause, Franziska
- Schneider, Ronen
- Taranta-Janusz, Katarzyna
- Szczepańska, Maria
- Pawlaczyk, Krzysztof
- Newman, William G
- Beaman, Glenda M
- Stuart, Helen M
- Cervellione, Raimondo M
- Feitz, Wouter F J
- van Rooij, Iris A L M
- Schreuder, Michiel F
- Steffens, Martijn
- Weber, Stefanie
- Merz, Waltraut M
- Feldkötter, Markus
- Hoppe, Bernd
- Thiele, Holger
- Altmüller, Janine
- Berg, Christoph
- Kristiansen, Glen
- Ludwig, Michael
- Reutter, Heiko
- Woolf, Adrian S
- Hildebrandt, Friedhelm
- Grote, Phillip
- Zaniew, Marcin
- Odermatt, Benjamin
- Hilger, Alina C
Producer: 20200206
In:
American journal of human genetics vol. 104
Availability: No items available.
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12.
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ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder. [electronic resource] by
- Cuvertino, Sara
- Stuart, Helen M
- Chandler, Kate E
- Roberts, Neil A
- Armstrong, Ruth
- Bernardini, Laura
- Bhaskar, Sanjeev
- Callewaert, Bert
- Clayton-Smith, Jill
- Davalillo, Cristina Hernando
- Deshpande, Charu
- Devriendt, Koenraad
- Digilio, Maria C
- Dixit, Abhijit
- Edwards, Matthew
- Friedman, Jan M
- Gonzalez-Meneses, Antonio
- Joss, Shelagh
- Kerr, Bronwyn
- Lampe, Anne Katrin
- Langlois, Sylvie
- Lennon, Rachel
- Loget, Philippe
- Ma, David Y T
- McGowan, Ruth
- Des Medt, Maryse
- O'Sullivan, James
- Odent, Sylvie
- Parker, Michael J
- Pebrel-Richard, Céline
- Petit, Florence
- Stark, Zornitza
- Stockler-Ipsiroglu, Sylvia
- Tinschert, Sigrid
- Vasudevan, Pradeep
- Villa, Olaya
- White, Susan M
- Zahir, Farah R
- Woolf, Adrian S
- Banka, Siddharth
Producer: 20180102
In:
American journal of human genetics vol. 101
Availability: No items available.
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13.
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Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. [electronic resource] by
- Vivante, Asaf
- Kleppa, Marc-Jens
- Schulz, Julian
- Kohl, Stefan
- Sharma, Amita
- Chen, Jing
- Shril, Shirlee
- Hwang, Daw-Yang
- Weiss, Anna-Carina
- Kaminski, Michael M
- Shukrun, Rachel
- Kemper, Markus J
- Lehnhardt, Anja
- Beetz, Rolf
- Sanna-Cherchi, Simone
- Verbitsky, Miguel
- Gharavi, Ali G
- Stuart, Helen M
- Feather, Sally A
- Goodship, Judith A
- Goodship, Timothy H J
- Woolf, Adrian S
- Westra, Sjirk J
- Doody, Daniel P
- Bauer, Stuart B
- Lee, Richard S
- Adam, Rosalyn M
- Lu, Weining
- Reutter, Heiko M
- Kehinde, Elijah O
- Mancini, Erika J
- Lifton, Richard P
- Tasic, Velibor
- Lienkamp, Soeren S
- Jüppner, Harald
- Kispert, Andreas
- Hildebrandt, Friedhelm
Producer: 20151029
In:
American journal of human genetics vol. 97
Availability: No items available.
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14.
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Urinary tract effects of HPSE2 mutations. [electronic resource] by
- Stuart, Helen M
- Roberts, Neil A
- Hilton, Emma N
- McKenzie, Edward A
- Daly, Sarah B
- Hadfield, Kristen D
- Rahal, Jeffery S
- Gardiner, Natalie J
- Tanley, Simon W
- Lewis, Malcolm A
- Sites, Emily
- Angle, Brad
- Alves, Cláudia
- Lourenço, Teresa
- Rodrigues, Márcia
- Calado, Angelina
- Amado, Marta
- Guerreiro, Nancy
- Serras, Inês
- Beetz, Christian
- Varga, Rita-Eva
- Silay, Mesrur Selcuk
- Darlow, John M
- Dobson, Mark G
- Barton, David E
- Hunziker, Manuela
- Puri, Prem
- Feather, Sally A
- Goodship, Judith A
- Goodship, Timothy H J
- Lambert, Heather J
- Cordell, Heather J
- Saggar, Anand
- Kinali, Maria
- Lorenz, Christian
- Moeller, Kristina
- Schaefer, Franz
- Bayazit, Aysun K
- Weber, Stefanie
- Newman, William G
- Woolf, Adrian S
Producer: 20150611
In:
Journal of the American Society of Nephrology : JASN vol. 26
Availability: No items available.
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