Found: 25
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Optimized nested PCR enhances biological diagnosis and phylogenetic analysis of human parvovirus B19 infections.
- Published in:
- Archives of Virology, 2019, v. 164, n. 11, p. 2775, doi. 10.1007/s00705-019-04368-w
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- Article
Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene.
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- Frontiers in Endocrinology, 2018, p. 1, doi. 10.3389/fendo.2018.00491
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- Article
Diurnal temporal patterns of the diversity and the abundance of reef fishes in a branching coral patch in New Caledonia.
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- Austral Ecology, 2016, v. 41, n. 7, p. 733, doi. 10.1111/aec.12360
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- Article
Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually de novo Disorder.
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- Frontiers in Endocrinology, 2019, p. 1, doi. 10.3389/fendo.2019.00625
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- Article
NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects.
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- European Journal of Endocrinology, 2016, v. 175, n. 1, p. 73, doi. 10.1530/EJE-16-0056
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- Article
Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in Algeria.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.867073
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- Article
Effect of Recombinant Gonadotropin on Testicular Function and Testicular Sperm Extraction in Five Cases of NR0B1 (DAX1) Pathogenic Variants.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.855082
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- Article
Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations.
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- Hormone Research in Paediatrics, 2020, v. 93, n. 1, p. 30, doi. 10.1159/000507249
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- Publication type:
- Article
Letter to the Editor From Janot et al: « Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia ».
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 9, p. e1808, doi. 10.1210/clinem/dgae229
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- Article
Steroid Profiling in the Amniotic Fluid: Reference Range for 12 Steroids and Interest in 21-Hydroxylase Deficiency.
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- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 5, p. e129, doi. 10.1210/clinem/dgac656
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- Article
Complementarity of Rotating Video and Underwater Visual Census for Assessing Species Richness, Frequency and Density of Reef Fish on Coral Reef Slopes.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0084344
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- Publication type:
- Article
Remote High-Definition Rotating Video Enables Fast Spatial Survey of Marine Underwater Macrofauna and Habitats.
- Published in:
- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0030536
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- Publication type:
- Article
CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease.
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- 2009
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- Publication type:
- journal article
A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia.
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- 2005
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- Publication type:
- journal article
Delayed Diagnosis of Congenital Adrenal Hyperplasia with Salt Wasting Due to Type II 3.-Hydroxysteroid Dehydrogenase Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 4, p. 2076, doi. 10.1210/jc.2004-1374
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- Publication type:
- Article
Gonadal Dysgenesis Without Adrenal Insufficiency in a 46, XY Patient Heterozygous for the Nonsense C16X Mutation: A Case of SF1 Haploinsufficiency.
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- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 10, p. 4829, doi. 10.1210/jc.2004-0670
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- Publication type:
- Article
Gonadal Dysgenesis Without Adrenal Insufficiency in a 46, XY Patient Heterozygous for the Nonsense C16X Mutation: A Case of SF1 Haploinsufficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 10, p. 4829, doi. 10.1210/jc.2004-0670
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- Publication type:
- Article
Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome.
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- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 11, p. 2868, doi. 10.1210/jc.2007-0024
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- Publication type:
- Article
Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Serfs*5).
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1171822
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- Publication type:
- Article
P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation.
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- 2016
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- Publication type:
- journal article
Congenital lipoid adrenal hyperplasia (a rare form of adrenal insufficiency and ambiguous genitalia) caused by a novel mutation of the steroidogenic acute regulatory protein gene.
- Published in:
- European Journal of Pediatrics, 2012, v. 171, n. 5, p. 787, doi. 10.1007/s00431-011-1620-5
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- Publication type:
- Article
Sea snake diversity at the Entrecasteaux atolls, Coral Sea, as revealed by video observations at unbaited stations.
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- Coral Reefs, 2022, v. 41, n. 6, p. 1551, doi. 10.1007/s00338-022-02307-x
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- Publication type:
- Article
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3540, doi. 10.1002/ajmg.a.62966
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- Publication type:
- Article
A novel disorder of sex development, characterized by progressive regression of testicular function and cystic leukoencephalopathy.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 654, doi. 10.1002/ajmg.a.38093
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- Publication type:
- Article
Nondestructive Monitoring of Soft Bottom Fish and Habitats Using a Standardized, Remote and Unbaited 360° Video Sampling Method.
- Published in:
- Fishes (MDPI AG), 2021, v. 6, n. 4, p. 50, doi. 10.3390/fishes6040050
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- Article