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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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- Publication type:
- Article
Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy.
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- Pediatric Endocrinology, Diabetes & Metabolism, 2024, v. 30, n. 2, p. 74, doi. 10.5114/pedm.2024.139367
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- Publication type:
- Article
Clinical use of Molecular Data in Thyroid Nodules and Cancer.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 11, p. 2759, doi. 10.1210/clinem/dgad282
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- Publication type:
- Article
The Risk of Expanding Risk Stratification in Thyroid Cancer.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 10, p. e1147, doi. 10.1210/clinem/dgad182
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- Publication type:
- Article
Molecular Genetics of Diffuse Sclerosing Papillary Thyroid Cancer.
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- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 9, p. e704, doi. 10.1210/clinem/dgad185
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- Publication type:
- Article
A Unique Mechanism of a Novel Synonymous PHEX Variant Causing X-Linked Hypophosphatemia.
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 10, p. 2883, doi. 10.1210/clinem/dgac435
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- Publication type:
- Article
Fumarate Hydratase is a Novel Gene for Familial Non-Medullary Thyroid Cancer.
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 9, p. 2539, doi. 10.1210/clinem/dgac386
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- Publication type:
- 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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- Publication type:
- Article
Genetic Alterations in Pediatric Thyroid Cancer Using a Comprehensive Childhood Cancer Gene Panel.
- Published in:
- 2020
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- Publication type:
- journal article
Mutation of SGK3, a Novel Regulator of Renal Phosphate Transport, Causes Autosomal Dominant Hypophosphatemic Rickets.
- Published in:
- 2019
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- Publication type:
- journal article
On the Development of a Data-Driven-Based Fractional-Order Controller for Unmanned Aerial Vehicles.
- Published in:
- Fractal & Fractional, 2023, v. 7, n. 3, p. 236, doi. 10.3390/fractalfract7030236
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- Publication type:
- Article
Aberrant BRAF splicing as an alternative mechanism for oncogenic B-Raf activation in thyroid carcinoma.
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- Journal of Pathology, 2009, v. 217, n. 5, p. 707, doi. 10.1002/path.2496
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- Publication type:
- Article
Academic Writing Difficulties of EFL Learners at Najran University.
- Published in:
- Arts for Psychological & Educational Studies, 2024, v. 6, n. 3, p. 348, doi. 10.53285/artsep.v613.2141
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- Publication type:
- 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
CLINICAL CASE SEMINAR: Metastatic Follicular Thyroid Carcinoma Arising from Congenital Goiter as a Result of a Novel Splice Donor Site Mutation in the Thyroglobulin Gene.
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- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 3, p. 740, doi. 10.1210/jc.2005-2302
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- Publication type:
- Article
<sup>123</sup>I Isotope as a Diagnostic Agent in the Follow-Up of Patients with Differentiated Thyroid Cancer: Comparison with Post <sup>131</sup>I Therapy Whole Body Scanning.
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- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 11, p. 5294, doi. 10.1210/jcem.86.11.8030
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- Publication type:
- Article
A Randomized Clinical Trial Comparing 2 Levothyroxine Regimens During Ramadan Fasting in Thyroidectomized Patients.
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- Journal of the Endocrine Society, 2024, v. 8, n. 11, p. 1, doi. 10.1210/jendso/bvae173
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- Publication type:
- Article
Germline Variants in Sporadic Pituitary Adenomas.
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- Journal of the Endocrine Society, 2024, v. 8, n. 6, p. 1, doi. 10.1210/jendso/bvae085
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- Publication type:
- Article
Papillary Thyroid Cancer and a TERT Promotor Mutation-positive Paraganglioma in a Patient With a Germline SDHB Mutation.
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- Journal of the Endocrine Society, 2022, v. 6, n. 7, p. 1, doi. 10.1210/jendso/bvac076
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- Publication type:
- Article
A Unique Genotype of Pseudohypoaldosteronism Type 1b in a Highly Consanguineous Population.
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- Journal of the Endocrine Society, 2021, v. 5, n. 8, p. 1, doi. 10.1210/jendso/bvab095
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- Publication type:
- Article
Thyroid surgery in 103 children in a single institution from 2000-2014.
- Published in:
- 2020
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- Publication type:
- journal article
Comment from the Annals.
- Published in:
- Annals of Saudi Medicine, 2008, v. 28, n. 1, p. 60
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- Publication type:
- Article
Epidemiology, clinical and complications profile of diabetes in Saudi Arabia: a review.
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- 2007
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- Publication type:
- journal article
Epidemiology, Clinical and Complications Proile of Diabetes in Saudi Arabia: A Review.
- Published in:
- Annals of Saudi Medicine, 2007, v. 27, n. 4, p. 241
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- Publication type:
- Article
Resistin: can we resist its role in insulin resistance?
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- 2005
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- Publication type:
- commentary
Resistin: Can we resist its role in insulin resistance?
- Published in:
- Annals of Saudi Medicine, 2005, v. 25, n. 4, p. 281
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- Publication type:
- Article
High frequency of somatic mitochondrial DNA mutations in human thyroid carcinomas and complex I respiratory defect in thyroid cancer cell lines.
- Published in:
- Oncogene, 2005, v. 24, n. 8, p. 1455, doi. 10.1038/sj.onc.1208292
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- Publication type:
- Article
Single Point Mutations in Pediatric Differentiated Thyroid Cancer.
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- Thyroid, 2017, v. 27, n. 2, p. 189, doi. 10.1089/thy.2016.0339
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- Publication type:
- Article
HABP2 Gene Mutations Do Not Cause Familial or Sporadic Non-Medullary Thyroid Cancer in a Highly Inbred Middle Eastern Population.
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- Thyroid, 2016, v. 26, n. 5, p. 667, doi. 10.1089/thy.2015.0537
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- Publication type:
- Article
Ultrasonographic predictors of thyroid cancer in Bethesda III and IV thyroid nodules.
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- Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2024.1326134
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- Publication type:
- Article
An aggressive cabergoline-resistant, temozolomide-responsive macroprolactinoma due to a germline SDHB pathogenic variant in the absence of paraganglioma or pheochromocytoma.
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- Frontiers in Endocrinology, 2023, p. 01, doi. 10.3389/fendo.2023.1273093
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- Publication type:
- Article
How do BRAF<sup>V600E</sup> and TERT promoter mutations interact with the ATA and TNM staging systems in thyroid cancer?
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1270796
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- Publication type:
- Article
SARS-CoV-2: Emerging Role in the Pathogenesis of Various Thyroid Diseases.
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- Journal of Inflammation Research, 2021, v. 14, p. 6191, doi. 10.2147/JIR.S332705
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- Publication type:
- Article
Erratum: The role of F-18-fluorodeoxyglucose positron emission tomography in the postoperative evaluation of differentiated thyroid cancer.
- Published in:
- 2008
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- Publication type:
- Erratum
Thiamine transporter mutation: an example of monogenic diabetes mellitus.
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- European Journal of Endocrinology, 2006, v. 155, n. 6, p. 787, doi. 10.1530/eje.1.02305
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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.
- Published in:
- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1171816
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- Publication type:
- Article
Indirect-Neural-Approximation-Based Fault-Tolerant Integrated Attitude and Position Control of Spacecraft Proximity Operations.
- Published in:
- Sensors (14248220), 2022, v. 22, n. 5, p. N.PAG, doi. 10.3390/s22051726
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- Publication type:
- Article
Thyroid Cancer in Saudi Arabia: A Histopathological and Outcome Study.
- Published in:
- International Journal of Endocrinology, 2017, p. 1, doi. 10.1155/2017/8423147
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- Publication type:
- Article
Adrenal hypoplasia congenita in identical twins.
- Published in:
- Saudi Medical Journal, 2019, v. 40, n. 1, p. 87, doi. 10.15537/smj.2019.1.23337
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- Publication type:
- Article
Classical V600E and other non-hotspot BRAF mutations in adult differentiated thyroid cancer.
- Published in:
- 2016
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- Publication type:
- journal article
LncRNA GAS8-AS1 dinucleotide genetic variant<sup>n.713A>G, n.714T>C</sup> is associated with early-stage disease, lymph node, and distant metastasis in differentiated thyroid cancer.
- Published in:
- Endocrine (1355008X), 2024, v. 85, n. 3, p. 1278, doi. 10.1007/s12020-024-03802-7
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- Publication type:
- Article
Potential impacts of SARS-CoV-2 on parathyroid: current advances and trends.
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- Endocrine (1355008X), 2023, v. 81, n. 3, p. 391, doi. 10.1007/s12020-023-03415-6
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- Publication type:
- Article
Incomplete response to therapy in intermediate- and high-risk thyroid cancer.
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- Endocrine (1355008X), 2022, v. 78, n. 3, p. 531, doi. 10.1007/s12020-022-03187-5
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- Publication type:
- Article
Spinal epidural lipomatosis: a rare and frequently unrecognized complication of Cushing syndrome.
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- Endocrine (1355008X), 2022, v. 76, n. 1, p. 218, doi. 10.1007/s12020-022-03026-7
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- Publication type:
- Article
Controversy on the management of patients carrying RET p.V804M mutation.
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- Endocrine (1355008X), 2022, v. 75, n. 2, p. 478, doi. 10.1007/s12020-021-02895-8
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- Publication type:
- Article
SARS-CoV-2 plays a pivotal role in inducing hyperthyroidism of Graves' disease.
- Published in:
- Endocrine (1355008X), 2021, v. 73, n. 2, p. 243, doi. 10.1007/s12020-021-02770-6
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- Publication type:
- Article
One genotype, many phenotypes: SDHB p.R90X mutation-associated paragangliomas.
- Published in:
- Endocrine (1355008X), 2020, v. 70, n. 3, p. 644, doi. 10.1007/s12020-020-02461-8
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- Publication type:
- Article
Correction to: Absence of EIF1AX, PPM1D, and CHEK2 mutations reported in Thyroid Cancer Genome Atlas (TCGA) in a large series of thyroid cancer.
- Published in:
- 2019
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- Publication type:
- Correction Notice
Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population.
- Published in:
- Endocrine (1355008X), 2019, v. 63, n. 2, p. 361, doi. 10.1007/s12020-018-1767-1
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- Publication type:
- Article
Absence of EIF1AX, PPM1D, and CHEK2 mutations reported in Thyroid Cancer Genome Atlas (TCGA) in a large series of thyroid cancer.
- Published in:
- Endocrine (1355008X), 2019, v. 63, n. 1, p. 94, doi. 10.1007/s12020-018-1762-6
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- Publication type:
- Article