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Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.
- Published in:
- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0124-4
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- Publication type:
- Article
Identification of a novel genetic locus underlying tremor and dystonia.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0123-5
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- Publication type:
- Article
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.
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- Human Genomics, 2016, v. 10, p. 1, doi. 10.1186/s40246-016-0089-8
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- Publication type:
- Article
New susceptibility locus for obesity and dyslipidaemia on chromosome 3q22.3.
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- Human Genomics, 2013, v. 7, n. 1, p. 1, doi. 10.1186/1479-7364-7-15
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- Publication type:
- Article
A study of the role of GATA4 polymorphism in cardiovascular metabolic disorders.
- Published in:
- Human Genomics, 2013, v. 7, n. 1, p. 1, doi. 10.1186/1479-7364-7-25
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- Publication type:
- Article
New susceptibility locus for obesity and dyslipidaemia on chromosome 3q22.3.
- Published in:
- Human Genomics, 2013, v. 7, p. 1, doi. 10.1186/1479-7364-7-15
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- Publication type:
- Article
Genetic Study of Saudi Diabetes (GSSD): significant association of the KCNJ11 E23K polymorphism with type 2 diabetes.
- Published in:
- Diabetes/Metabolism Research & Reviews, 2008, v. 24, n. 2, p. 137, doi. 10.1002/dmrr.777
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- Publication type:
- Article
Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.607517
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- Article
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.
- Published in:
- 2018
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- Publication type:
- journal article
Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism.
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 3, p. e12263, doi. 10.1210/clinem/dgab737
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- Article
Mutation of SGK3, a Novel Regulator of Renal Phosphate Transport, Causes Autosomal Dominant Hypophosphatemic Rickets.
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- 2019
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- Publication type:
- journal article
A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 7, p. 480, doi. 10.1038/jhg.2013.27
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- Publication type:
- Article
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 715, doi. 10.1002/ajmg.a.38615
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- Publication type:
- Article
Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 245, doi. 10.1002/ajmg.a.34347
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- Publication type:
- Article
Mutation of TBCE causes hypoparathyroidism–retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome.
- Published in:
- Nature Genetics, 2002, v. 32, n. 3, p. 448
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- Publication type:
- Article
Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome.
- Published in:
- Nature Genetics, 2001, v. 28, n. 3, p. 261, doi. 10.1038/90100
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- Article
Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0629-2
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- Article
A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1.
- Published in:
- 2010
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- Publication type:
- journal article
Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families.
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- International Journal of Dermatology, 2016, v. 55, n. 6, p. 673, doi. 10.1111/ijd.13279
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- Publication type:
- Article
Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 14, doi. 10.1038/ejhg.2008.141
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- Publication type:
- Article
β-catenin attenuation leads to up-regulation of activating NKG2D ligands and tumor regression in Braf<sup>V600E</sup>-driven thyroid cancer cells.
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- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1171816
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- Publication type:
- Article
Novel mutations underlying argininosuccinicaciduria in Saudi Arabia.
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- BMC Research Notes, 2010, v. 3, p. 79, doi. 10.1186/1756-0500-3-79
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- Publication type:
- Article
Specific and complete human genome amplification with improved yield achieved by phi29 DNA polymerase and a novel primer at elevated temperature.
- Published in:
- BMC Research Notes, 2009, v. 2, p. 1, doi. 10.1186/1756-0500-2-48
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- Publication type:
- Article
Haplotypes Encompassing the KIAA0391 and PSMA6 Gene Cluster Confer a Genetic Link for Myocardial Infarction and Coronary Artery Disease.
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- Annals of Human Genetics, 2009, v. 73, n. 5, p. 475, doi. 10.1111/j.1469-1809.2009.00534.x
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- Article
The peroxisome proliferator-activated receptor-gamma2 P12A polymorphism and type 2 diabetes in an Arab population.
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- 2006
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- Publication type:
- Letter
The Peroxisome Proliferator-Activated Receptor-γ2 P12A Polymorphism and Type 2 Diabetes in an Arab Population.
- Published in:
- Diabetes Care, 2006, v. 29, n. 1, p. 171, doi. 10.2337/diacare.29.01.06.dc05-1858
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- Publication type:
- Article
Wild-type S100A3 and S100A13 restore calcium homeostasis and mitigate mitochondrial dysregulation in pulmonary fibrosis patient-derived cells.
- Published in:
- Frontiers in Cell & Developmental Biology, 2023, p. 1, doi. 10.3389/fcell.2023.1282868
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- Publication type:
- Article
The Affymetrix DMET Plus Platform Reveals Unique Distribution of ADME-Related Variants in Ethnic Arabs.
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- Disease Markers, 2015, v. 2015, p. 1, doi. 10.1155/2015/542543
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- Publication type:
- Article
A New Susceptibility Locus for Myocardial Infarction, Hypertension, Type 2 Diabetes Mellitus, and Dyslipidemia on Chromosome 12q24.
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- Disease Markers, 2014, p. 1, doi. 10.1155/2014/291419
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- Publication type:
- Article
LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation.
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- Acta Myologica, 2018, v. 37, n. 3, p. 221
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- Article
Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.
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- 2021
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- Publication type:
- journal article
Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining.
- Published in:
- Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00351-2
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- Publication type:
- Article
METTL23, a transcriptional partner of GABPA, is essential for human cognition.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3456, doi. 10.1093/hmg/ddu054
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- Publication type:
- Article
Expanding Phenotypic and Allelic Heterogeneity of Tricho-Hepato-Enteric Syndrome.
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- Journal of Pediatric Gastroenterology & Nutrition, 2015, v. 60, n. 3, p. 352, doi. 10.1097/MPG.0000000000000627
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- Publication type:
- Article
Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis.
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- Arthritis & Rheumatology, 2015, v. 67, n. 1, p. 288, doi. 10.1002/art.38877
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- Publication type:
- Article
Erratum: A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.
- Published in:
- Scientific Reports, 2015, p. 12372, doi. 10.1038/srep12372
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- Publication type:
- Article
A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.
- Published in:
- Scientific Reports, 2015, p. 10442, doi. 10.1038/srep10442
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- Publication type:
- Article
Concomitant RAS, RET/PTC, or BRAF Mutations in Advanced Stage of Papillary Thyroid Carcinoma.
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- Thyroid, 2014, v. 24, n. 8, p. 1256, doi. 10.1089/thy.2013.0610
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- Publication type:
- Article
Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.
- Published in:
- PLoS ONE, 2022, v. 17, n. 1, p. 1, doi. 10.1371/journal.pone.0263137
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- Publication type:
- Article
Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis.
- Published in:
- 2018
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- Publication type:
- journal article
O4 Familial juvenile idiopathic arthritis: clinical features and localization to chromosome 13q
- Published in:
- 2007
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- Publication type:
- Abstract
Pattern Recognition Receptor Polymorphisms as Predictors of Oxaliplatin Benefit in Colorectal Cancer.
- Published in:
- 2019
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- Publication type:
- journal article
Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.
- Published in:
- Clinical Endocrinology, 2017, v. 87, n. 1, p. 103, doi. 10.1111/cen.13347
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- Publication type:
- Article
Increased CYP24A1 expression is associated with BRAF<sup> V600E</sup> mutation and advanced stages in papillary thyroid carcinoma.
- Published in:
- Clinical Endocrinology, 2014, v. 81, n. 1, p. 109, doi. 10.1111/cen.12396
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- Publication type:
- Article
Molecular characterization of a novel p.R118C mutation in the insulin receptor gene from patients with severe insulin resistance.
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- Clinical Endocrinology, 2012, v. 76, n. 4, p. 540, doi. 10.1111/j.1365-2265.2011.04258.x
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- Publication type:
- Article
A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype.
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- Clinical Endocrinology, 2011, v. 75, n. 6, p. 791, doi. 10.1111/j.1365-2265.2011.04134.x
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- Publication type:
- Article
Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3.
- Published in:
- PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0193388
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- Publication type:
- Article
Mutation of p16, p21 or cyclin dependent kinase 4 is rare in acute lymphoblastic leukaemia.
- Published in:
- British Journal of Haematology, 1998, v. 103, n. 2, p. 467, doi. 10.1046/j.1365-2141.1998.00974.x
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- Publication type:
- Article
The detection of rhodamine 123 efflux at low levels of drug resistance.
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- British Journal of Haematology, 1996, v. 93, n. 3, p. 650, doi. 10.1046/j.1365-2141.1996.d01-1680.x
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- Publication type:
- Article
The 3[prime]-UTR of the adiponectin Q gene harbours susceptibility loci for atherosclerosis and its metabolic risk traits.
- Published in:
- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-127
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- Publication type:
- Article