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Browsing "Department of Paediatrics & Adolescent Medicine" by Author faivre, l
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Showing results 2 to 3 of 3
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Title
Author(s)
Issue Date
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion
Journal:
Clinical Genetics
Chiu, TA
Pei, LCS
MAK, CCY
Leung, KC
YU, HC
Lee, SL
Vreeburg, M
Pfundt, R
van der Burgt, I
Kleefstra, T
Frederic, TMT
Nambot, S
Faivre, L
Bruel, AL
Rossi, M
Isidor, B
Kury, S
Cogne, B
Besnard, T
Willems, M
Reijnders, MRF
Chung, BHY
2018
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development
Journal:
Neuron
Lennox, AL
Hoye, ML
Jiang, R
Johnson-Kerner, BL
Suit, LA
Venkataramanan, S
Sheehan, CJ
Alsina, FC
Fregeau, B
Aldinger, KA
Moey, C
Lobach, I
Afenjar, A
Babovic-Vuksanovic, D
Bezieau, S
Blackburn, PR
Bunt, J
Burglen, L
Campeau, PM
Charles, P
Chung, BHY
Cogne, B
Curry, C
D'Agostino, MD
Di Donato, N
Faivre, L
Heron, D
Innes, AM
Isidor, B
Keren, B
Kimball, A
Klee, EW
Kuentz, P
Kury, S
Martin-Coignard, D
Mirzaa, G
Mignot, C
Myake, N
Matsumoto, N
Fujita, A
Nava, C
Nizon, M
Rodriguez, D
Blok, LS
Thauvin-Robinet, C
Thevenon, J
Vincent, M
Ziegler, A
Dobyns, W
Richards, LJ
Barkovich, AJ
Floor, SN
Silver, DL
Sherr, EH
2020