Found: 28
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Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: A long‐term follow‐up study.
- Published in:
- Pediatric Pulmonology, 2019, v. 54, n. 6, p. 837, doi. 10.1002/ppul.24324
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- Publication type:
- Article
Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency.
- Published in:
- Pharmaceuticals (14248247), 2018, v. 11, n. 2, p. 37, doi. 10.3390/ph11020037
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- Publication type:
- Article
Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 11, p. e1316, doi. 10.1210/clinem/dgad280
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- Publication type:
- Article
Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.
- Published in:
- 2021
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- Publication type:
- journal article
Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype.
- Published in:
- 2020
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- Publication type:
- journal article
Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 11, p. 3603, doi. 10.3390/jcm9113603
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- Publication type:
- Article
Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype.
- Published in:
- PLoS ONE, 2015, v. 10, n. 11, p. 1, doi. 10.1371/journal.pone.0142831
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- Publication type:
- Article
Human <i>NR5A1</i>/SF-1 Mutations Show Decreased Activity on BDNF (Brain-Derived Neurotrophic Factor), an Important Regulator of Energy Balance: Testing Impact of Novel SF-1 Mutations Beyond Steroidogenesis.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0104838
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- Publication type:
- Article
Growth Hormone (GH) Dose, But Not Exon 3-Deleted/ Full-Length GH Receptor Polymorphism Genotypes, Influences Growth Response to Two-Year GH Therapy in Short Small-for-Gestational-Age Children.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 1, p. 147, doi. 10.1210/jc.2007-1182
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- Publication type:
- Article
Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.
- Published in:
- Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.02325
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- Publication type:
- Article
A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent Müllerian Duct Syndrome.
- Published in:
- Sexual Development, 2019, v. 13, n. 2, p. 87, doi. 10.1159/000499324
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- Publication type:
- Article
Development of Laboratory Investigations in Disorders of Sex Development.
- Published in:
- Sexual Development, 2018, v. 12, n. 1-3, p. 7, doi. 10.1159/000479719
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- Publication type:
- Article
Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17α-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients.
- Published in:
- Sexual Development, 2017, v. 11, n. 2, p. 70, doi. 10.1159/000468160
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- Publication type:
- Article
LRH-1 May Rescue SF-1 Deficiency for Steroidogenesis: An in vitroand in vivoStudy.
- Published in:
- Sexual Development, 2015, v. 9, n. 3, p. 144, doi. 10.1159/000381575
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- Publication type:
- Article
Complete Androgen Insensitivity Syndrome Associated with Male Gender Identity or Female Precocious Puberty in the Same Family.
- Published in:
- Sexual Development, 2015, v. 9, n. 2, p. 75, doi. 10.1159/000371617
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- Publication type:
- Article
Longitudinal Pubertal Growth According to Age at Pubertal Growth Spurt Onset: Data from a Spanish Study Including 458 Children (223 Boys and 235 Girls).
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2009, v. 22, n. 8, p. 715
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- Publication type:
- Article
Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00746
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- Publication type:
- Article
Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient.
- Published in:
- Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0105-3
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- Publication type:
- Article
GATA4 Variants in Individuals With a 46, XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes.
- Published in:
- Frontiers in Endocrinology, 2018, p. 1, doi. 10.3389/fendo.2018.00142
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- Publication type:
- Article
Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 6, p. 524, doi. 10.3390/cells13060524
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- Publication type:
- Article
Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.957969
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- Publication type:
- Article
Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene.
- Published in:
- Frontiers in Endocrinology, 2024, p. 01, doi. 10.3389/fendo.2024.1367808
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- Publication type:
- Article
Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor (TSHR).
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 18, p. 10032, doi. 10.3390/ijms251810032
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- Publication type:
- Article
Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype–Phenotype Correlation.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 15, p. 8473, doi. 10.3390/ijms25158473
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- Publication type:
- Article
STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.
- Published in:
- Clinical Endocrinology, 2014, v. 80, n. 2, p. 191, doi. 10.1111/cen.12293
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- Publication type:
- Article
Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF- I receptor ( IGF1R) gene.
- Published in:
- Clinical Endocrinology, 2013, v. 78, n. 2, p. 255, doi. 10.1111/j.1365-2265.2012.04481.x
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- Publication type:
- Article
Contribution of human growth hormone-releasing hormone receptor ( GHRHR) gene sequence variation to isolated severe growth hormone deficiency ( ISGHD) and normal adult height.
- Published in:
- Clinical Endocrinology, 2012, v. 77, n. 4, p. 564, doi. 10.1111/j.1365-2265.2012.04410.x
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- Publication type:
- Article
Human growth hormone ( GH1) gene polymorphism map in a normal-statured adult population.
- Published in:
- Clinical Endocrinology, 2007, v. 66, n. 2, p. 258, doi. 10.1111/j.1365-2265.2006.02718.x
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- Publication type:
- Article