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Dissemin
Quentin Thomas
Thomas et al., 2022
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@article{Thomas2022, author = {Thomas, Quentin and Gauthier, Thierry and Marafi, Dana and Bernard, Thomas and Willems, Marjolaine and Moutton, Sebastien and Isidor, Bertrand and Cogne, Benjamin and Conrad, Solene and Tenconi, Romano and Iascone, Maria and Sorlin, Arthur and Masurel, Alice and Dabir, Tabib and Jackson, Adam and Banka, Siddharth and Delanne, Julian and Lupski, James R. and Saadi, Nebal W. and Alkuraya, Fowzan S. and Al Zahrani, Fatema and Agrawal, Pankaj B. and England, Eleina and Madden, Jill A. and Posey, Jennifer E. and Burglen, Lydie and Rodriguez, Diana and Chevarin, Martin and Nguyen, Sylvie and Mau-Them, Frederic Tran and Duffourd, Yannis and Garret, Philippine and Bruel, Ange-Line and Callier, Patrick and Marle, Nathalie and Denomme-Pichon, Anne-Sophie and Duplomb, Laurence and Philippe, Christophe and Thauvin-Robinet, Christel and Govin, Jerome and Faivre, Laurence and Vitobello, Antonio}, month = {jan}, title = {Haploinsuffiency of ARFGEF1 is associated with developmental delay, intellectual disability and epilepsy with variable expressivity}, year = {2022} }
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Haploinsuffiency of ARFGEF1 is associated with developmental delay, intellectual disability and epilepsy with variable expressivity
Journal article published in 2022 by
Quentin Thomas
,
Thierry Gauthier
,
Dana Marafi
,
Thomas Bernard
,
Marjolaine Willems
,
Sebastien Moutton
,
Bertrand Isidor
,
Benjamin Cogne
,
Solene Conrad
,
Romano Tenconi
,
Maria Iascone
,
Arthur Sorlin
,
Alice Masurel
,
Tabib Dabir
,
Adam Jackson
and
other authors.
Quentin Thomas
,
Thierry Gauthier
,
Dana Marafi
,
Thomas Bernard
,
Marjolaine Willems
,
Sebastien Moutton
,
Bertrand Isidor
,
Benjamin Cogne
,
Solene Conrad
,
Romano Tenconi
,
Maria Iascone
,
Arthur Sorlin
,
Alice Masurel
,
Tabib Dabir
,
Adam Jackson
,
Siddharth Banka
,
Julian Delanne
,
James R. Lupski
,
Nebal W. Saadi
,
Fowzan S. Alkuraya
,
Fatema Al Zahrani
,
Pankaj B. Agrawal
,
Eleina England
,
Jill A. Madden
,
Jennifer E. Posey
,
Lydie Burglen
,
Diana Rodriguez
,
Martin Chevarin
,
Sylvie Nguyen
,
Frederic Tran Mau-Them
,
Yannis Duffourd
,
Philippine Garret
,
Ange-Line Bruel
,
Patrick Callier
,
Nathalie Marle
,
Anne-Sophie Denomme-Pichon
,
Laurence Duplomb
,
Christophe Philippe
,
Christel Thauvin-Robinet
,
Jerome Govin
,
Laurence Faivre
,
Antonio Vitobello
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