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MLL2 mutation detection in 86 patients with Kabuki syndrome
MLL2 mutation detection in 86 patients with Kabuki syndrome
2013
Periklis Makrythanasis
B.W.M. van Bon
Marloes Steehouwer
B Rodríguez-Santiago
Michael A. Simpson
Patrícia Dias
Britt-Marie Anderlid
P Arts
M Bhat
Bartolomeo Augello
Elisa Biamino
Emhf Bongers
M. del Campo
Isabel Cordeiro
Am Cueto-González
I Cuscó
Charu Deshpande
E Frysira
Louise Izatt
R Flores
E. Galán
B Gener
Christian Gilissen
Sm Granneman
Jürgen Hoyer
Helger G. Yntema
Cm Kets
David A. Koolen
Carlo Marcelis
A. Medeira
Lucia Micale
Shehla Mohammed
Sa de Munnik
Ann Nordgren
Stavroula Psoni
Willie Reardon
Nicole Revencu
Tony Roscioli
M. Ruiterkamp-Versteeg
Hg Santos
Jacqueline Schoumans
Jhm Schuurs-Hoeijmakers
Margherita Silengo
L Toledo
T. Vendrell
I. van der Burgt
B van Lier
Christiane Zweier
Alexandre Reymond
Richard C. Trembath
Luis A. Pérez Jurado
Juliette Dupont
B. de Vries
H.G. Brunner
Joris A. Veltman
Giuseppe Merla
Stylianos E. Antonarakis
Alexander Hoischen
Keywords:
Niikawa-Kuroki Syndrome
Kabuki syndrome
Genetics
Sotos syndrome
Biology
Mutation
mutation detection
Correction
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