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1.
Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability.
Am J Med Genet A
; 176(9): 1981-1984, 2018 09.
Article
in English
| MEDLINE | ID: mdl-30178921
2.
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.
Hum Mol Genet
; 24(12): 3335-47, 2015 Jun 15.
Article
in English
| MEDLINE | ID: mdl-25740848
3.
Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth.
Am J Hum Genet
; 94(3): 470-8, 2014 Mar 06.
Article
in English
| MEDLINE | ID: mdl-24607389
4.
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
Am J Hum Genet
; 92(5): 681-95, 2013 May 02.
Article
in English
| MEDLINE | ID: mdl-23623388
5.
Loss of the neurodevelopmental disease-associated gene miR-146a impairs neural progenitor differentiation and causes learning and memory deficits.
Mol Autism
; 11(1): 22, 2020 03 30.
Article
in English
| MEDLINE | ID: mdl-32228681
6.
Role of miR-146a in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders.
Mol Autism
; 9: 38, 2018.
Article
in English
| MEDLINE | ID: mdl-29951184
7.
Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.
Eur J Hum Genet
; 26(6): 912-918, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29483668
8.
High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect.
Elife
; 72018 10 12.
Article
in English
| MEDLINE | ID: mdl-30311906
9.
The emerging roles of MicroRNAs in autism spectrum disorders.
Neurosci Biobehav Rev
; 71: 729-738, 2016 Dec.
Article
in English
| MEDLINE | ID: mdl-27793596
10.
Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology.
Mol Autism
; 7: 1, 2016.
Article
in English
| MEDLINE | ID: mdl-26753090
11.
A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.
Eur J Hum Genet
; 24(3): 455-8, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26153217
12.
Nonsense-mediated mRNA decay: inter-individual variability and human disease.
Neurosci Biobehav Rev
; 46 Pt 2: 175-86, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-24239855
13.
Rare copy number variation in cerebral palsy.
Eur J Hum Genet
; 22(1): 40-5, 2014 Jan.
Article
in English
| MEDLINE | ID: mdl-23695280
14.
Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay.
Eur J Med Genet
; 55(8-9): 476-9, 2012.
Article
in English
| MEDLINE | ID: mdl-22609145
15.
A UPF3-mediated regulatory switch that maintains RNA surveillance.
Nat Struct Mol Biol
; 16(7): 747-53, 2009 Jul.
Article
in English
| MEDLINE | ID: mdl-19503078
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