Found: 27
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Studies of a co-chaperone of the androgen receptor, FKBP52, as candidate for hypospadias.
- Published in:
- Reproductive Biology & Endocrinology, 2007, v. 5, p. 8, doi. 10.1186/1477-7827-5-8
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- Publication type:
- Article
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.
- Published in:
- BMC Genomics, 2014, v. 15, n. 1, p. 921, doi. 10.1186/1471-2164-15-1090
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- Publication type:
- Article
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
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- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00855-5
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- Article
Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects.
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- International Journal of Endocrinology, 2016, p. 1, doi. 10.1155/2016/4209670
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- Publication type:
- Article
Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1439, doi. 10.1038/ejhg.2009.70
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- Publication type:
- Article
Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms.
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- European Journal of Human Genetics, 2008, v. 16, n. 7, p. 786, doi. 10.1038/ejhg.2008.14
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- Publication type:
- Article
Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.
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- European Journal of Human Genetics, 2007, v. 15, n. 2, p. 143, doi. 10.1038/sj.ejhg.5201737
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- Publication type:
- Article
Multiplex Ligation-Dependent Probe Amplification Analysis of the NR0B1(DAX1) Locus Enables Explanation of Phenotypic Differences in Patients with X-Linked Congenital Adrenal Hypoplasia.
- Published in:
- Hormone Research in Paediatrics, 2012, v. 77, n. 2, p. 100, doi. 10.1159/000336344
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- Publication type:
- Article
Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.
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- Journal of Clinical Immunology, 2017, v. 37, n. 1, p. 51, doi. 10.1007/s10875-016-0347-5
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- Publication type:
- Article
Isolated 46,XY Gonadal Dysgenesis in Two Sisters Caused by a Xp21.2 Interstitial Duplication Containing the DAX1 Gene.
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- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 8, p. 3305, doi. 10.1210/jc.2007-0505
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- Article
Not All Amino Acid Substitutions of the Common Cluster E6 Mutation in CYP21 Cause Congenital Adrenal Hyperplasia.
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- 2005
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- Publication type:
- journal article
CYP21 Genotype, Adult Height, and Pubertal Development in 55 Patients Treated for 21-Hydroxylase Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 12, p. 5680, doi. 10.1210/jc.2003-030123
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- Publication type:
- Article
CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency.
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- 2003
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- Publication type:
- journal article
First Year of TREC-Based National SCID Screening in Sweden.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030059
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- Publication type:
- Article
Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development.
- Published in:
- Clinical Endocrinology, 2007, v. 66, n. 6, p. 822, doi. 10.1111/j.1365-2265.2007.02819.x
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- Publication type:
- Article
Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-13
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- Publication type:
- Article
Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis.
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- International Journal of Endocrinology, 2012, p. 1, doi. 10.1155/2012/504904
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- Publication type:
- Article
Very long‐chain acyl‐CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics.
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- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 2, p. 181, doi. 10.1002/jmd2.12268
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- Publication type:
- Article
Diagnostic pitfalls in vitamin B6‐dependent epilepsy caused by mutations in the PLPBP gene.
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- Journal of Inherited Metabolic Disease Reports, 2019, v. 50, n. 1, p. 1, doi. 10.1002/jmd2.12063
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- Publication type:
- Article
Epigenetic Alterations Associated With Early Prenatal Dexamethasone Treatment.
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- Journal of the Endocrine Society, 2019, v. 3, n. 1, p. 250, doi. 10.1210/js.2018-00377
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- Publication type:
- Article
Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia.
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- Journal of Molecular Medicine, 2007, v. 85, n. 3, p. 243, doi. 10.1007/s00109-006-0121-x
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- Publication type:
- Article
PARKIN is not required to sustain OXPHOS function in adult mammalian tissues.
- Published in:
- NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00707-0
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- Publication type:
- Article
Complex 9p rearrangement in an XY patient with ambiguous genitalia and features of both 9p duplication and deletion.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1498, doi. 10.1002/ajmg.a.35344
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- Publication type:
- Article
Epilepsy syndromes, etiologies, and the use of next‐generation sequencing in epilepsy presenting in the first 2 years of life: A population‐based study.
- Published in:
- Epilepsia (Series 4), 2020, v. 61, n. 11, p. 2486, doi. 10.1111/epi.16701
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- Publication type:
- Article
Mutations in the mitochondrial tryptophanyl‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.654
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- Publication type:
- Article
In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia.
- Published in:
- Clinical Endocrinology, 2015, v. 82, n. 1, p. 37, doi. 10.1111/cen.12526
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- Publication type:
- Article
Functional studies of CYP21A2 mutants complement structural and clinical predictions of disease severity in CAH.
- Published in:
- Clinical Endocrinology, 2012, v. 76, n. 5, p. 766, doi. 10.1111/j.1365-2265.2011.04275.x
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- Publication type:
- Article