Found: 34
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X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Identification of Novel Mutations in Colorectal Cancer Patients Using AmpliSeq Comprehensive Cancer Panel.
- Published in:
- Journal of Personalized Medicine, 2021, v. 11, n. 6, p. 535, doi. 10.3390/jpm11060535
- By:
- Publication type:
- Article
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-83
- By:
- Publication type:
- Article
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases.
- Published in:
- 2013
- By:
- Publication type:
- journal article
A novel interstitial deletion of chromosome 2q21.1‐q23.3: Case report and literature review.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 4, p. 1, doi. 10.1002/mgg3.1135
- By:
- Publication type:
- Article
KIF16B is a candidate gene for a novel autosomal‐recessive intellectual disability syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1602, doi. 10.1002/ajmg.a.38723
- By:
- Publication type:
- Article
Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1621, doi. 10.1002/ajmg.a.37040
- By:
- Publication type:
- Article
A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2610, doi. 10.1002/ajmg.a.35584
- By:
- Publication type:
- Article
Clinical course of myeloproliferative leukaemia virus oncogene (MPL) mutation‐associated familial thrombocytosis: a review of 64 paediatric and adult patients.
- Published in:
- British Journal of Haematology, 2021, v. 194, n. 5, p. 893, doi. 10.1111/bjh.17624
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- Publication type:
- Article
A novel gene in early childhood diabetes: EDEM2 silencing decreases SLC2A2 and PXD1 expression, leading to impaired insulin secretion.
- Published in:
- Molecular Genetics & Genomics, 2020, v. 295, n. 5, p. 1253, doi. 10.1007/s00438-020-01695-5
- By:
- Publication type:
- Article
Age/BMI is a Stronger Predictor of Death in COVID-19 Patients than Age Alone: A Pilot Study.
- Published in:
- Journal of Epidemiology & Global Health, 2022, v. 12, n. 4, p. 548, doi. 10.1007/s44197-022-00075-z
- By:
- Publication type:
- Article
Mucolipidosis II: first report from Saudi Arabia.
- Published in:
- Annals of Saudi Medicine, 2013, v. 33, n. 4, p. 382, doi. 10.5144/0256-4947.2013.382
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- Publication type:
- Article
HCV genotypes among 1013 Saudi nationals: a multicenter study.
- Published in:
- Annals of Saudi Medicine, 2013, v. 33, n. 1, p. 10, doi. 10.5144/0256-4947.2013.10
- By:
- Publication type:
- Article
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 184, doi. 10.1038/ejhg.2013.112
- By:
- Publication type:
- Article
Late-onset multiple venous malformations confined to the upper limb: link to somatic MAP3K3 mutations.
- Published in:
- Journal of Hand Surgery (17531934), 2020, v. 45, n. 10, p. 1023, doi. 10.1177/1753193420922459
- By:
- Publication type:
- Article
Exome sequencing revealed DNA variants in NCOR1, IGF2BP1, SGLT2 and NEK11 as potential novel causes of ketotic hypoglycemia in children.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-58845-3
- By:
- Publication type:
- Article
Prevalence of Associated Endocrine Diseases in Patients with Neurofibromatosis Type 1.
- Published in:
- Avicenna Journal of Medicine, 2022, v. 12, n. 1, p. 16, doi. 10.1055/s-0041-1742197
- By:
- Publication type:
- Article
CRISPR/Cas9 ADCY7 Knockout Stimulates the Insulin Secretion Pathway Leading to Excessive Insulin Secretion.
- Published in:
- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.657873
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- Publication type:
- Article
Prevalence of Mixed Hepatitis C Virus (HCV) Genotypes among Recently Diagnosed Dialysis Patients with HCV Infection.
- Published in:
- Saudi Journal of Kidney Diseases & Transplantation, 2011, v. 22, n. 4, p. 712
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- Publication type:
- Article
Histopathology of Middle East respiratory syndrome coronovirus (MERS‐CoV) infection – clinicopathological and ultrastructural study.
- Published in:
- Histopathology, 2018, v. 72, n. 3, p. 516, doi. 10.1111/his.13379
- By:
- Publication type:
- Article
Novel Presentation of Major Histocompatibility Complex Class II Deficiency with Hemophagocytic Lymphohistiocytosis.
- Published in:
- Journal of Clinical Immunology, 2024, v. 44, n. 3, p. 1, doi. 10.1007/s10875-024-01674-0
- By:
- Publication type:
- Article
Novel Presentation of Major Histocompatibility Complex Class II Deficiency with Hemophagocytic Lymphohistiocytosis.
- Published in:
- Journal of Clinical Immunology, 2023, v. 43, n. 3, p. 1, doi. 10.1007/s10875-024-01674-0
- By:
- Publication type:
- Article
Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 997, doi. 10.1007/s10545-012-9577-8
- By:
- Publication type:
- Article
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.
- Published in:
- International Journal of Cancer, 2013, v. 133, n. 12, p. 2864, doi. 10.1002/ijc.28307
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- Publication type:
- Article
Familial Glucocorticoid Deficiency in Five Arab Kindreds with Homozygous Point Mutations of the ACTH Receptor (MC2R): Genotype and Phenotype Correlations.
- Published in:
- Hormone Research in Paediatrics, 2011, v. 76, n. 3, p. 165, doi. 10.1159/000328035
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- Publication type:
- Article
Peeling of skin as presenting manifestation in congenital disorders of glycosylation.
- Published in:
- Journal of Dermatology, 2020, v. 47, n. 9, p. e335, doi. 10.1111/1346-8138.15459
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- Publication type:
- Article
Isolation and Establishment of a Highly Proliferative, Cancer Stem Cell-Like, and Naturally Immortalized Triple-Negative Breast Cancer Cell Line, KAIMRC2.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 6, p. 1303, doi. 10.3390/cells10061303
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- Publication type:
- Article
A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 599, doi. 10.1002/ajmg.a.33717
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- Publication type:
- Article
Risk factors predicting disease severity and mortality in coronavirus disease 2019 Saudi Arabian patients.
- Published in:
- Annals of Thoracic Medicine, 2023, v. 18, n. 2, p. 98, doi. 10.4103/atm.atm_435_22
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- Publication type:
- Article
Novel frameshift mutations in ADAMTS13 in two families with hereditary thrombotic thrombocytopenic purpura.
- Published in:
- Pediatric Blood & Cancer, 2013, v. 60, n. 9, p. 1559, doi. 10.1002/pbc.24594
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- Publication type:
- Article
Differential Gene Expression in Peripheral White Blood Cells with Permissive Underfeeding and Standard Feeding in Critically Ill Patients: A Descriptive Sub-study of the PermiT Randomized Controlled Trial.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-36007-w
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- Publication type:
- Article
Permissive underfeeding, cytokine profiles and outcomes in critically ill patients.
- Published in:
- PLoS ONE, 2019, v. 14, n. 01, p. 1, doi. 10.1371/journal.pone.0209669
- By:
- Publication type:
- Article
Coexistence of chronic myeloid leukemia and diffuse large B-cell lymphoma with antecedent chronic lymphocytic leukemia: a case report and review of the literature.
- Published in:
- 2018
- By:
- Publication type:
- journal article