Detalhe da pesquisa
1.
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Brain
; 146(12): 5031-5043, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37517035
2.
Bi-allelic null variant in matrix metalloproteinase-15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive.
Clin Genet
; 101(4): 403-410, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34988996
3.
Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.
J Med Genet
; 55(2): 122-130, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29122926
4.
Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus.
BMC Med Genet
; 19(1): 34, 2018 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29499638
5.
A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.
Am J Med Genet A
; 173(5): 1257-1263, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28322503
6.
Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.
Am J Med Genet A
; 170A(1): 156-61, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26395437
7.
Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability.
Eur J Pediatr
; 174(5): 661-8, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25388407
8.
Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.
Metab Brain Dis
; 30(3): 687-94, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25227173
9.
The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.
Childs Nerv Syst
; 30(7): 1183-9, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24413922
10.
A null variant in PUS3 confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease.
Clin Genet
; 94(6): 586-587, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30308082
11.
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.
Birth Defects Res A Clin Mol Teratol
; 97(12): 764-9, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24014090
12.
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
Eur J Hum Genet
; 29(1): 141-153, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32860008
13.
Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities.
J Mol Neurosci
; 70(3): 320-327, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31721002
14.
Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs.
Hum Genome Var
; 2: 15001, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-27082236
15.
A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy.
J Mol Neurosci
; 56(1): 17-23, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25403906
16.
A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child.
J Mol Neurosci
; 57(3): 393-9, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26055038
17.
Mutation spectrum of Joubert syndrome and related disorders among Arabs.
Hum Genome Var
; 1: 14020, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-27081510
18.
LINS, a modulator of the WNT signaling pathway, is involved in human cognition.
Orphanet J Rare Dis
; 8: 87, 2013 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-23773660
19.
New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation.
J Dermatol
; 42(8): 821-2, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25958742