TY  - GEN
AU  - Magen,Daniella
AU  - Ofir,Ayala
AU  - Berger,Liron
AU  - Goldsher,Dorit
AU  - Eran,Ayelet
AU  - Katib,Nasser
AU  - Katib,Nassser
AU  - Nijem,Yousif
AU  - Vlodavsky,Euvgeni
AU  - Tzur,Shay
AU  - Zur,Shay
AU  - Behar,Doron M
AU  - Fellig,Yakov
AU  - Mandel,Hanna
TI  - Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5
SN  - 1432-1203
PY  - 2015///0413
KW  - Base Sequence
KW  - Cells, Cultured
KW  - Cerebellum
KW  - abnormalities
KW  - Consanguinity
KW  - Cyclin-Dependent Kinase 5
KW  - genetics
KW  - DNA Mutational Analysis
KW  - Developmental Disabilities
KW  - enzymology
KW  - Female
KW  - Genes, Recessive
KW  - Genetic Association Studies
KW  - Genetic Complementation Test
KW  - Homozygote
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Lissencephaly
KW  - Male
KW  - Mutation, Missense
KW  - Nervous System Malformations
KW  - Pedigree
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1007/s00439-014-1522-5
ER  -