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Browsing by Author Green, Andrew
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Showing results 1 to 1 of 1
Publication Date
Title
Author(s)
Type
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24-Sep-2018
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Kennedy, Joanna
;
Goudie, David
;
Blair, Edward
;
Chandler, Kate
;
Joss, Shelagh
;
McKay, Victoria
;
Green, Andrew
;
Armstrong, Ruth
;
Lees, Melissa
;
Kamien, Benjamin
;
Hopper, Bruce
;
Tan, Tiong Yang
;
Yap, Patrick
;
Stark, Zornitza
;
Okamoto, Nobuhiko
;
Miyake, Noriko
;
Matsumoto, Naomichi
;
Macnamara, Ellen
;
Murphy, Jennifer L
;
McCormick, Elizabeth
;
Hakonarson, Hakon
;
Falk, Marni J
;
Li, Dong
;
Blackburn, Patrick
;
Klee, Eric
;
Babovic-Vuksanovic, Dusica
;
Schelley, Susan
;
Hudgins, Louanne
;
Kant, Sarina
;
Isidor, Bertrand
;
Cogne, Benjamin
;
Bradbury, Kimberley
;
Williams, Mark
;
Patel, Chirag
;
Heussler, Helen
;
Duff-Farrier, Celia
;
Lakeman, Phillis
;
Scurr, Ingrid
;
Kini, Usha
;
Elting, Mariet
;
Reijnders, Margot
;
Schuurs-Hoeijmakers, Janneke
;
Wafik, Mohamed
;
Blomhoff, Anne
;
Ruivenkamp, Claudia A L
;
Nibbeling, Esther
;
Dingemans, Alexander J M
;
Douine, Emilie D
;
Nelson, Stanley F
;
Arboleda, Valerie A
;
Newbury-Ecob, Ruth
Journal Article
KAT6A syndrome; chromatin modifiers; intellectual disability; genetic diagnosis; phenotypic spectrum
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