Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature
about
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndromeThe mitotic spindle: linking teratogenic effects of Zika virus with human genetics?Cerebral cortex expansion and folding: what have we learned?Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis.KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy.Identification of candidate biomarkers and analysis of prognostic values in ovarian cancer by integrated bioinformatics analysis.Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
P2860
Q21146647-B6BDB6F2-38FA-4740-B1DD-2B8FB50271E6Q24261196-8EE3809C-73E0-461C-8B00-A852839CFE3DQ26750873-5F48B1B1-DCFA-420D-8473-26F5E47FD045Q36925353-95CC9B1D-97EC-4938-8CEB-18287D159510Q40425956-42D92278-7917-4A55-886C-F0826CE87F70Q40531442-8FB5A375-CB34-4FA7-97FA-C8E137E2D3B3Q52647919-8697AF2E-7B37-43C9-84AE-C5189A44F531
P2860
Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature
description
article
@en
im November 2014 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в листопаді 2014
@uk
name
Congenital microcephaly and ch ...... s and review of the literature
@en
Congenital microcephaly and ch ...... s and review of the literature
@nl
type
label
Congenital microcephaly and ch ...... s and review of the literature
@en
Congenital microcephaly and ch ...... s and review of the literature
@nl
prefLabel
Congenital microcephaly and ch ...... s and review of the literature
@en
Congenital microcephaly and ch ...... s and review of the literature
@nl
P2093
P2860
P356
P1476
Congenital microcephaly and ch ...... s and review of the literature
@en
P2093
Alma Bicknese
Bradley Davitt
Carissa Adams
Ghayda M Mirzaa
Gretchen Parsons
Helga Toriello
Laura Enyedi
Livija Medne
Sarah Collins
Susan Christian
P2860
P304
P356
10.1002/AJMG.A.36707
P407
P577
2014-11-01T00:00:00Z