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Gillessen‐Kaesbach Gabriele
Gillessen‐Kaesbach Gabriele
Neurodevelopmental disorder
Genetics
Library science
Dominance (genetics)
Engineering
2
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Mutations in HACE1 cause an autosomal-recessive neurodevelopmental disorder
2016
Hollstein Ronja
A Perry David
Nalbach Lisa
V Logan Clare
M Strom Tim
L Hartill Verity
M Carr Ian
C Korenke Georg
Uppal Sandeep
Ahmed Mushtaq
Wieland Thomas
F Markham Alexander
P Bennett Christopher
Gillessen‐Kaesbach Gabriele
G Sheridan Eamonn
T Bonthron David
J. Kaiser Frank
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コルネリアデランゲ(Cornelia de Lange)症候群を有する2人の患者における2つのイントロン内NIPBL突然変異の同定および性状解析
2016
E Teresa‐Rodrigo Maria
Eckhold Juliane
Puisac Beatriz
Pozojevic Jelena
Parenti Ilaria
Baquero‐Montoya Carolina
C Gil‐Rodriguez Maria
Braunholz Diana
Dalski Andreas
Hernandez‐Marcos Maria
Ayerza Ariadna
L Bernal Maria
J Ramos Feliciano
Wieczorek Dagmar
Gillessen‐Kaesbach Gabriele
Pie Juan
J. Kaiser Frank
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