Found: 14
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The Levodopa Response Varies in Pathologically Confirmed Parkinson's Disease: A Systematic Review.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 2, p. 218, doi. 10.1002/mdc3.12885
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- Publication type:
- Article
The Role of the European Society of Human Genetics in Delivering Genomic Education.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.693952
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- Publication type:
- Article
Creation and Worldwide Utilisation of New COVID-19 Online Information Hub for Genetics Health Professionals, Patients and Families.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.621683
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- Publication type:
- Article
Absence of ST7 mutations in tumor-derived cell lines and tumors.
- Published in:
- Nature Genetics, 2001, v. 29, n. 4, p. 380, doi. 10.1038/ng783
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- Article
Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect.
- Published in:
- 2011
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- Publication type:
- journal article
Thioredoxin Reductase 2 Variant as a Cause of Micropenis, Undescended Testis, and Selective Glucocorticoid Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2024, v. 97, n. 5, p. 509, doi. 10.1159/000535528
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- Publication type:
- Article
Identification and Functional Assessment of Novel and Known Insulin Receptor Mutations in Five Patients with Syndromes of Severe Insulin Resistance.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 9, p. 4251, doi. 10.1210/jc.2003-030034
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- Publication type:
- Article
Novel Genetic Associations and Range of Phenotypes in Children with Disorders of Sex Development and Neurodevelopment: Insights from the Deciphering Developmental Disorders Study.
- Published in:
- Sexual Development, 2016, v. 10, n. 3, p. 130, doi. 10.1159/000447958
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- Publication type:
- Article
Delayed diagnosis of adrenal hypoplasia congenita in a patient with a new mutation in the NR0B1 gene.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25, n. 1/2, p. 147, doi. 10.1515/jpem.2011.400
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- Publication type:
- Article
Incident venous thromboembolic events in the Prospective Study of Pravastatin in the Elderly at Risk (PROSPER).
- Published in:
- 2011
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- Publication type:
- journal article
Incident venous thromboembolic events in the Prospective Study of Pravastatin in the Elderly at Risk (PROSPER).
- Published in:
- BMC Geriatrics, 2011, v. 11, n. 1, p. 8, doi. 10.1186/1471-2318-11-8
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- Publication type:
- Article
SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis.
- Published in:
- Endocrine (1355008X), 2024, v. 84, n. 2, p. 345, doi. 10.1007/s12020-024-03701-x
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- Publication type:
- Article
The M53I mutation in CDKN2A is a founder mutation that predominates in melanoma patients with Scottish ancestry.
- Published in:
- Genes, Chromosomes & Cancer, 2007, v. 46, n. 3, p. 277, doi. 10.1002/gcc.20410
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- Publication type:
- Article
EuroGEMS.org: Guide and links to online genetic and genomic educational resources, valuable for all levels.
- Published in:
- Human Mutation, 2020, v. 41, n. 12, p. 2021, doi. 10.1002/humu.24113
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- Publication type:
- Article