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Dissemin
Tobias Haack
Ansari et al., 2023
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@article{Ansari2023, author = {Ansari, Morad and Faour, Kamli N. W. and Shimamura, Akiko and Grimes, Graeme and Kao, Emeline M. and Denhoff, Erica R. and Blatnik, Ana and Ben-Isvy, Daniel and Wang, Lily and Helm, Benjamin M. and Firth, Helen and Breman, Amy M. and Bijlsma, Emilia K. and Iwata-Otsubo, Aiko and de Ravel, Thomy J. L. and Fusaro, Vincent and Fryer, Alan and Nykamp, Keith and Stuhn, Lara G. and Haack, Tobias B. and Korenke, G. Christoph and Constantinou, Panayiotis and Bujakowska, Kinga M. and Low, Karen J. and Place, Emily and Humberson, Jennifer and Napier, Melanie P. and Hoffman, Jessica and Juusola, Jane and Deardorff, Matthew A. and Shao, Wanqing and Rockowitz, Shira and Krantz, Ian and Kaur, Maninder and Raible, Sarah and Kliesch, Sabine and Singer-Berk, Moriel and Groopman, Emily and DiTroia, Stephanie and Ballal, Sonia and Srivastava, Siddharth and Rothfelder, Kathrin and Biskup, Saskia and Rzasa, Jessica and Kerkhof, Jennifer and McConkey, Haley and O'Donnell-Luria, Anne and Sadikovic, Bekim and Hilton, Sarah and Banka, Siddharth and Tuttelmann, Frank and Conrad, Donald and Talkowski, Michael E. and FitzPatrick, David R. and Boone, Philip M.}, month = {jan}, title = {Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features}, year = {2023} }
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Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features
Journal article published in 2023 by
Morad Ansari
,
Kamli N. W. Faour
,
Akiko Shimamura
,
Graeme Grimes
,
Emeline M. Kao
,
Erica R. Denhoff
,
Ana Blatnik
,
Daniel Ben-Isvy
,
Lily Wang
,
Benjamin M. Helm
,
Helen Firth
,
Amy M. Breman
,
Emilia K. Bijlsma
,
Aiko Iwata-Otsubo
,
Thomy J. L. de Ravel
and
other authors.
Morad Ansari
,
Kamli N. W. Faour
,
Akiko Shimamura
,
Graeme Grimes
,
Emeline M. Kao
,
Erica R. Denhoff
,
Ana Blatnik
,
Daniel Ben-Isvy
,
Lily Wang
,
Benjamin M. Helm
,
Helen Firth
,
Amy M. Breman
,
Emilia K. Bijlsma
,
Aiko Iwata-Otsubo
,
Thomy J. L. de Ravel
,
Vincent Fusaro
,
Alan Fryer
,
Keith Nykamp
,
Lara G. Stuhn
,
Tobias B. Haack
,
G. Christoph Korenke
,
Panayiotis Constantinou
,
Kinga M. Bujakowska
,
Karen J. Low
,
Emily Place
,
Jennifer Humberson
,
Melanie P. Napier
,
Jessica Hoffman
,
Jane Juusola
,
Matthew A. Deardorff
,
Wanqing Shao
,
Shira Rockowitz
,
Ian Krantz
,
Maninder Kaur
,
Sarah Raible
,
Sabine Kliesch
,
Moriel Singer-Berk
,
Emily Groopman
,
Stephanie DiTroia
,
Sonia Ballal
,
Siddharth Srivastava
,
Kathrin Rothfelder
,
Saskia Biskup
,
Jessica Rzasa
,
Jennifer Kerkhof
,
Haley McConkey
,
Anne O'Donnell-Luria
,
Bekim Sadikovic
,
Sarah Hilton
,
Siddharth Banka
,
Frank Tuttelmann
,
Donald Conrad
,
Michael E. Talkowski
,
David R. FitzPatrick
,
Philip M. Boone
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