De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder

Kúry, Sébastien; Besnard, Thomas; Ebstein, Frédéric; Khan, Tahir N.; Gambin, Tomasz; Douglas, Jessica; Bacino, Carlos A.; Craigen, William J.; Sanders, Stephan J.; Lehmann, Andrea; Latypova, Xénia; Khan, Kamal; Pacault, Mathilde; Sacharow, Stephanie; Glaser, Kimberly; Bieth, Eric; Perrin-Sabourin, Laurence; Jacquemont, Marie-Line; Cho, Megan T.; Roeder, Elizabeth; Denommé-Pichon, Anne-Sophie; Monaghan, Kristin G.; Yuan, Bo; Xia, Fan; Sylvain, Simon; Bonneau, Dominique; Parent, Philippe; Gilbert-Dussardier, Brigitte; Odent, Sylvie; Toutain, Annick; Pasquier, Laurent; Barbouth, Deborah; Shaw, Chad A.; Patel, Ankita; Smith, Janice L.; Bi, Weimin; Schmitt, Sébastien; Deb, Wallid; Nizon, Mathilde; Mercier, Sandra; Vincent, Marie; Rooryck, Caroline; Malan, Valérrie; Briceño, Ignacio; Gómez, Alberto; Nugent, Kimberly M.; Gibson, James B.; Cogné, Benjamin; Lupski, James R.; Stessman, Holly A. F.; Eichler, Evan E.; Retterer, Kyle; Yang, Yaping; Redon, Richard; Katsanis, Nicholas; Rosenfeld, Jill A.; Kloetzel, Peter-Michael; Golzio, Christelle; Bézieau, Stéphane; Stankiewicz, Pawe; Isidor, Bertrand

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Hum Genet 100(2).pdf (1.780Mb)

Autor

Kúry, Sébastien

Besnard, Thomas

Ebstein, Frédéric

Khan, Tahir N.

Gambin, Tomasz

Douglas, Jessica

Bacino, Carlos A.

Craigen, William J.

Sanders, Stephan J.

Lehmann, Andrea

Latypova, Xénia

Khan, Kamal

Pacault, Mathilde

Sacharow, Stephanie

Glaser, Kimberly

Bieth, Eric

Perrin-Sabourin, Laurence

Jacquemont, Marie-Line

Cho, Megan T.

Roeder, Elizabeth

Denommé-Pichon, Anne-Sophie

Monaghan, Kristin G.

Yuan, Bo

Xia, Fan

Sylvain, Simon

Bonneau, Dominique

Parent, Philippe

Gilbert-Dussardier, Brigitte

Odent, Sylvie

Toutain, Annick

Pasquier, Laurent

Barbouth, Deborah

Shaw, Chad A.

Patel, Ankita

Smith, Janice L.

Bi, Weimin

Schmitt, Sébastien

Deb, Wallid

Nizon, Mathilde

Mercier, Sandra

Vincent, Marie

Rooryck, Caroline

Malan, Valérrie

Briceño, Ignacio

Gómez, Alberto

Nugent, Kimberly M.

Gibson, James B.

Cogné, Benjamin

Lupski, James R.

Stessman, Holly A. F.

Eichler, Evan E.

Retterer, Kyle

Yang, Yaping

Redon, Richard

Katsanis, Nicholas

Rosenfeld, Jill A.

Kloetzel, Peter-Michael

Golzio, Christelle

Bézieau, Stéphane

Stankiewicz, Pawe

Isidor, Bertrand

Excepto si se señala otra cosa, la licencia del ítem se describe como http://creativecommons.org/licenses/by-nc/4.0/