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1.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29122926
2.
METTL23, a transcriptional partner of GABPA, is essential for human cognition.
Hum Mol Genet
; 23(13): 3456-66, 2014 Jul 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-24501276
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-26395437
4.
Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
Hum Mutat
; 34(3): 498-505, 2013 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-23255084
5.
Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations.
Mol Cell Biochem
; 373(1-2): 247-57, 2013 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23124896
6.
Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients.
Hum Mol Genet
; 19(11): 2239-50, 2010 Jun 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-20223752
7.
A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract.
Birth Defects Res A Clin Mol Teratol
; 94(7): 553-6, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22678705
8.
Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?
Am J Med Genet A
; 155A(6): 1236-45, 2011 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-21548126
9.
Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.
BMC Med Genet
; 11: 33, 2010 Feb 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-20184732
10.
A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement.
Orphanet J Rare Dis
; 11(1): 139, 2016 10 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-27769300
11.
Secondary association of PDLIM5 with paranoid schizophrenia in Emirati patients.
Meta Gene
; 5: 135-9, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-26925374
12.
LINS, a modulator of the WNT signaling pathway, is involved in human cognition.
Orphanet J Rare Dis
; 8: 87, 2013 Jun 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-23773660
13.
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.
Orphanet J Rare Dis
; 7: 27, 2012 May 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-22587682
14.
Identification of new alleles and the determination of alleles and genotypes frequencies at the CYP2D6 gene in Emiratis.
PLoS One
; 6(12): e28943, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-22216145
15.
New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population.
Saudi Med J
; 32(4): 353-9, 2011 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-21483992
16.
Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.
PLoS One
; 6(10): e26206, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-22022569
17.
A response to Dr. Alzahrani's letter to the editor regarding the mechanism underlying fibrochondrogenesis.
Gene
; 528(2): 367-8, 2013 Oct 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-23906683
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