Detalhe da pesquisa
1.
Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder.
Am J Hum Genet
; 96(1): 147-52, 2015 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25500261
2.
A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia.
Hum Mutat
; 33(2): 351-4, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22065524
3.
Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.
Am J Hum Genet
; 85(5): 558-68, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19836009
4.
Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.
BMC Med Genet
; 12: 27, 2011 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-21324166
5.
Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families.
Mol Vis
; 17: 218-24, 2011 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-21264235
6.
Infantile esotropia could be oligogenic and allelic with Duane retraction syndrome.
Mol Vis
; 17: 1997-2002, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21850174
7.
Potential linkage of different phenotypic forms of childhood strabismus to a recessive susceptibility locus (16p13.12-p12.3).
Mol Vis
; 17: 971-6, 2011 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-21541264
8.
Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease.
Sci Rep
; 9(1): 3344, 2019 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30833663
9.
Analysis of shared homozygosity regions in Saudi siblings with attention deficit hyperactivity disorder.
Psychiatr Genet
; 27(4): 131-138, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28452824
10.
Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families.
Sci Rep
; 7(1): 5679, 2017 07 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28720891
11.
Exotropic Duane syndrome with synergistic divergence and no mutations in COL25A1.
J AAPOS
; 20(6): 542-544.e2, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27663630
12.
Homozygosity analysis in subjects with autistic spectrum disorder.
Mol Med Rep
; 12(2): 2307-12, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25901489
13.
Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis.
Arthritis Rheumatol
; 67(1): 288-95, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25220867
14.
Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050 +5 G>A.
Arch Ophthalmol
; 129(7): 936-40, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21746984
15.
The optic nerve head in congenital fibrosis of the extraocular muscles.
Ophthalmic Genet
; 32(3): 175-80, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21449832