Detalhe da pesquisa
1.
Novel Presentation of Major Histocompatibility Complex Class II Deficiency with Hemophagocytic Lymphohistiocytosis.
J Clin Immunol
; 44(3): 73, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38424321
2.
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.
Am J Hum Genet
; 105(1): 213-220, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230721
3.
Clinical course of myeloproliferative leukaemia virus oncogene (MPL) mutation-associated familial thrombocytosis: a review of 64 paediatric and adult patients.
Br J Haematol
; 194(5): 893-898, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34131895
4.
A novel gene in early childhood diabetes: EDEM2 silencing decreases SLC2A2 and PXD1 expression, leading to impaired insulin secretion.
Mol Genet Genomics
; 295(5): 1253-1262, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32556999
5.
Histopathology of Middle East respiratory syndrome coronovirus (MERS-CoV) infection - clinicopathological and ultrastructural study.
Histopathology
; 72(3): 516-524, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28858401
6.
KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndrome.
Am J Med Genet A
; 176(7): 1602-1609, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29736960
7.
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.
Am J Hum Genet
; 91(6): 1051-64, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23176821
8.
Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C.
Am J Med Genet A
; 167(7): 1621-6, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25820810
9.
Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.
J Pediatr
; 164(3): 553-9.e1-2, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24321534
10.
Genome-wide association study of chronic hepatitis B virus infection reveals a novel candidate risk allele on 11q22.3.
J Med Genet
; 50(11): 725-32, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24065354
11.
Novel point mutations and mutational complexes in the enhancer II, core promoter and precore regions of hepatitis B virus genotype D1 associated with hepatocellular carcinoma in Saudi Arabia.
Int J Cancer
; 133(12): 2864-71, 2013 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23740667
12.
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.
Am J Hum Genet
; 86(3): 389-98, 2010 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20188343
13.
Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype.
J Inherit Metab Dis
; 36(6): 997-1004, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23315216
14.
Risk factors predicting disease severity and mortality in coronavirus disease 2019 Saudi Arabian patients.
Ann Thorac Med
; 18(2): 98-102, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37323375
15.
The genetic basis of a craniofacial disease provides insight into COPII coat assembly.
Dev Cell
; 13(5): 623-634, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17981132
16.
A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency.
Am J Med Genet A
; 158A(10): 2610-5, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22903933
17.
Prevalence of Associated Endocrine Diseases in Patients with Neurofibromatosis Type 1.
Avicenna J Med
; 12(1): 16-20, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35586386
18.
Age/BMI is a Stronger Predictor of Death in COVID-19 Patients than Age Alone: A Pilot Study.
J Epidemiol Glob Health
; 12(4): 548-551, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36355277
19.
A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families.
Am J Med Genet A
; 155A(3): 599-604, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21344627
20.
Isolation and Establishment of a Highly Proliferative, Cancer Stem Cell-Like, and Naturally Immortalized Triple-Negative Breast Cancer Cell Line, KAIMRC2.
Cells
; 10(6)2021 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34073849