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Expanding the Spectrum of BAF-Related Disorders : De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
- Authors :
- Machol, Keren
Rousseau, Justine
Ehresmann, Sophie
Garcia, Thomas
Nguyen, Thi Tuyet Mai
Spillmann, Rebecca C.
Sullivan, Jennifer A.
Shashi, Vandana
Jiang, Yong hui
Stong, Nicholas
Fiala, Elise
Willing, Marcia
Pfundt, Rolph
Kleefstra, Tjitske
Cho, Megan T.
McLaughlin, Heather
Rosello Piera, Monica
Orellana, Carmen
Martínez, Francisco
Caro-Llopis, Alfonso
Monfort, Sandra
Roscioli, Tony
Nixon, Cheng Yee
Buckley, Michael F.
Turner, Anne
Jones, Wendy D.
van Hasselt, Peter M.
Hofstede, Floris C.
van Gassen, Koen L.I.
Brooks, Alice S.
van Slegtenhorst, Marjon A.
Lachlan, Katherine
Sebastian, Jessica
Madan-Khetarpal, Suneeta
Sonal, Desai
Sakkubai, Naidu
Thevenon, Julien
Faivre, Laurence
Maurel, Alice
Petrovski, Slavé
Krantz, Ian D.
Tarpinian, Jennifer M.
Rosenfeld, Jill A.
Lee, Brendan H.
Adams, David R.
Alejandro, Mercedes E.
Allard, Patrick
Azamian, Mahshid S.
Bacino, Carlos A.
Balasubramanyam, Ashok
Undiagnosed Diseases Network
Machol, Keren
Rousseau, Justine
Ehresmann, Sophie
Garcia, Thomas
Nguyen, Thi Tuyet Mai
Spillmann, Rebecca C.
Sullivan, Jennifer A.
Shashi, Vandana
Jiang, Yong hui
Stong, Nicholas
Fiala, Elise
Willing, Marcia
Pfundt, Rolph
Kleefstra, Tjitske
Cho, Megan T.
McLaughlin, Heather
Rosello Piera, Monica
Orellana, Carmen
Martínez, Francisco
Caro-Llopis, Alfonso
Monfort, Sandra
Roscioli, Tony
Nixon, Cheng Yee
Buckley, Michael F.
Turner, Anne
Jones, Wendy D.
van Hasselt, Peter M.
Hofstede, Floris C.
van Gassen, Koen L.I.
Brooks, Alice S.
van Slegtenhorst, Marjon A.
Lachlan, Katherine
Sebastian, Jessica
Madan-Khetarpal, Suneeta
Sonal, Desai
Sakkubai, Naidu
Thevenon, Julien
Faivre, Laurence
Maurel, Alice
Petrovski, Slavé
Krantz, Ian D.
Tarpinian, Jennifer M.
Rosenfeld, Jill A.
Lee, Brendan H.
Adams, David R.
Alejandro, Mercedes E.
Allard, Patrick
Azamian, Mahshid S.
Bacino, Carlos A.
Balasubramanyam, Ashok
Undiagnosed Diseases Network
- Publication Year :
- 2019
Details
- Database :
- OAIster
- Notes :
- English
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.on1303692435
- Document Type :
- Electronic Resource