TY  - GEN
AU  - Bramswig,Nuria C
AU  - Lüdecke,H-J
AU  - Pettersson,M
AU  - Albrecht,B
AU  - Bernier,R A
AU  - Cremer,K
AU  - Eichler,E E
AU  - Falkenstein,D
AU  - Gerdts,J
AU  - Jansen,S
AU  - Kuechler,A
AU  - Kvarnung,M
AU  - Lindstrand,A
AU  - Nilsson,D
AU  - Nordgren,A
AU  - Pfundt,R
AU  - Spruijt,L
AU  - Surowy,H M
AU  - de Vries,B B A
AU  - Wieland,T
AU  - Engels,H
AU  - Strom,T M
AU  - Kleefstra,T
AU  - Wieczorek,D
TI  - Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism
SN  - 1432-1203
PY  - 2017///0726
KW  - Adolescent
KW  - Autistic Disorder
KW  - diagnosis
KW  - Base Sequence
KW  - Carrier Proteins
KW  - genetics
KW  - Child
KW  - Cohort Studies
KW  - Female
KW  - Genetic Variation
KW  - Genome, Human
KW  - Humans
KW  - Intellectual Disability
KW  - Karyotyping
KW  - Male
KW  - Mutation, Missense
KW  - Phenotype
KW  - Proteolysis
KW  - RNA Splicing
KW  - Sequence Analysis, DNA
KW  - Ubiquitin-Protein Ligases
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s00439-016-1743-x
ER  -