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The copy number variation landscape of congenital anomalies of the kidney and urinary tract. [electronic resource] by
- Verbitsky, Miguel
- Westland, Rik
- Perez, Alejandra
- Kiryluk, Krzysztof
- Liu, Qingxue
- Krithivasan, Priya
- Mitrotti, Adele
- Fasel, David A
- Batourina, Ekaterina
- Sampson, Matthew G
- Bodria, Monica
- Werth, Max
- Kao, Charlly
- Martino, Jeremiah
- Capone, Valentina P
- Vivante, Asaf
- Shril, Shirlee
- Kil, Byum Hee
- Marasà, Maddalena
- Zhang, Jun Y
- Na, Young-Ji
- Lim, Tze Y
- Ahram, Dina
- Weng, Patricia L
- Heinzen, Erin L
- Carrea, Alba
- Piaggio, Giorgio
- Gesualdo, Loreto
- Manca, Valeria
- Masnata, Giuseppe
- Gigante, Maddalena
- Cusi, Daniele
- Izzi, Claudia
- Scolari, Francesco
- van Wijk, Joanna A E
- Saraga, Marijan
- Santoro, Domenico
- Conti, Giovanni
- Zamboli, Pasquale
- White, Hope
- Drozdz, Dorota
- Zachwieja, Katarzyna
- Miklaszewska, Monika
- Tkaczyk, Marcin
- Tomczyk, Daria
- Krakowska, Anna
- Sikora, Przemyslaw
- Jarmoliński, Tomasz
- Borszewska-Kornacka, Maria K
- Pawluch, Robert
- Szczepanska, Maria
- Adamczyk, Piotr
- Mizerska-Wasiak, Malgorzata
- Krzemien, Grazyna
- Szmigielska, Agnieszka
- Zaniew, Marcin
- Dobson, Mark G
- Darlow, John M
- Puri, Prem
- Barton, David E
- Furth, Susan L
- Warady, Bradley A
- Gucev, Zoran
- Lozanovski, Vladimir J
- Tasic, Velibor
- Pisani, Isabella
- Allegri, Landino
- Rodas, Lida M
- Campistol, Josep M
- Jeanpierre, Cécile
- Alam, Shumyle
- Casale, Pasquale
- Wong, Craig S
- Lin, Fangming
- Miranda, Débora M
- Oliveira, Eduardo A
- Simões-E-Silva, Ana Cristina
- Barasch, Jonathan M
- Levy, Brynn
- Wu, Nan
- Hildebrandt, Friedhelm
- Ghiggeri, Gian Marco
- Latos-Bielenska, Anna
- Materna-Kiryluk, Anna
- Zhang, Feng
- Hakonarson, Hakon
- Papaioannou, Virginia E
- Mendelsohn, Cathy L
- Gharavi, Ali G
- Sanna-Cherchi, Simone
Producer: 20190424
In:
Nature genetics vol. 51
Availability: No items available.
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UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients. [electronic resource] by
- de Leeuw, Nicole
- Bulk, Saskia
- Green, Andrew
- Jaeckle-Santos, Lane
- Baker, Linda A
- Zinn, Andrew R
- Kleefstra, Tjitske
- van der Smagt, Jasper J
- Vianne Morgante, Angela Maria
- de Vries, Bert B A
- van Bokhoven, Hans
- de Brouwer, Arjan P M
Producer: 20110315
In:
American journal of medical genetics. Part A vol. 152A
Availability: No items available.
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