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Giuseppina Vitiello
Voisin et al., 2019
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@misc{Voisin2019, author = {Voisin, Norine and Schnur, Rhonda E. and Douzgou, Sofia and Hiatt, Susan M. and Rustad, Cecilie F. and Brown, Natasha J. and Earl, Dawn L. and Keren, Boris and Levchenko, Olga and Geuer, Sinje and Amor, David and Brusco, Alfredo and Bebin, E. Martina and Martina Bebin, E. and Cappuccio, Gerarda and Charrow, Joel and Chatron, Nicolas and Cooper, Gregory M. and Dadali, Elena and Delafontaine, Julien and Del Giudice, Ennio and Douglas, Ganka and Funari, Tara and Giannuzzi, Giuliana and Guex, Nicolas and Heron, Delphine and Holla, Øystein L. and Hurst, Anna C. E. and Juusola, Jane and Kronn, David and Lavrov, Alexander and Lee, Crystle and Merckoll, Else and Mikhaleva, Anna and Norman, Jennifer and Pradervand, Sylvain and Sanders, Victoria and Sirchia, Fabio and Takenouchi, Toshiki and Tanaka, Akemi J. and Taska-Tench, Heidi and Tønne, Elin and Tveten, Kristian and Vitiello, Giuseppina and Uehara, Tomoko and Nava, Caroline and Yalcin, Binnaz and Kosaki, Kenjiro and Donnai, Dian and Mundlos, Stefan and Brunetti-Pierri, Nicola and Chung, Wendy K. and Reymond, Alexandre}, month = {jul}, title = {Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy}, year = {2019} }
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Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy
Published in 2019 by
Norine Voisin
,
Rhonda E. Schnur
,
Sofia Douzgou
,
Susan M. Hiatt
,
Cecilie F. Rustad
,
Natasha J. Brown
,
Dawn L. Earl
,
Boris Keren
,
Olga Levchenko
,
Sinje Geuer
,
David Amor
,
Alfredo Brusco
,
E. Martina Bebin
,
E. Martina Bebin
,
Gerarda Cappuccio
and
other authors.
Norine Voisin
,
Rhonda E. Schnur
,
Sofia Douzgou
,
Susan M. Hiatt
,
Cecilie F. Rustad
,
Natasha J. Brown
,
Dawn L. Earl
,
Boris Keren
,
Olga Levchenko
,
Sinje Geuer
,
David Amor
,
Alfredo Brusco
,
E. Martina Bebin
,
E. Martina Bebin
,
Gerarda Cappuccio
,
Joel Charrow
,
Nicolas Chatron
,
Gregory M. Cooper
,
Elena Dadali
,
Julien Delafontaine
,
Ennio Del Giudice
,
Ganka Douglas
,
Tara Funari
,
Giuliana Giannuzzi
,
Nicolas Guex
,
Delphine Heron
,
Øystein L. Holla
,
Anna C. E. Hurst
,
Jane Juusola
,
David Kronn
,
Alexander Lavrov
,
Crystle Lee
,
Else Merckoll
,
Anna Mikhaleva
,
Jennifer Norman
,
Sylvain Pradervand
,
Victoria Sanders
,
Fabio Sirchia
,
Toshiki Takenouchi
,
Akemi J. Tanaka
,
Heidi Taska-Tench
,
Elin Tønne
,
Kristian Tveten
,
Giuseppina Vitiello
,
Tomoko Uehara
,
Caroline Nava
,
Binnaz Yalcin
,
Kenjiro Kosaki
,
Dian Donnai
,
Stefan Mundlos
,
Nicola Brunetti-Pierri
,
Wendy K. Chung
,
Alexandre Reymond
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