Works matching DE "SMITH-Lemli-Opitz syndrome"
Results: 22
Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization.
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- Pediatric & Developmental Pathology, 2015, v. 18, n. 4, p. 279, doi. 10.2350/14-04-1465-PB.1
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- Article
LEMLI OPITZ SYNDROME: A CASE REPORT.
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- 2015
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- Case Study
Smith-Lemli-Opitz syndrome presenting as acute adrenal crisis in a child: a case report.
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- 2018
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- journal article
Clinical Pearl: Fentanyl Exposure Syndrome.
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- Neonatology Today, 2023, v. 18, n. 12, p. 189
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- Article
Biochemical and genetic diagnosis of Smith-Lemli- Opitz syndrome in South Africa.
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- South African Journal of Child Health, 2015, v. 9, n. 1, p. 23, doi. 10.7196/SAJCH.771
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- Article
SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT.
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- Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2015, v. 64, n. 1, p. 34, doi. 10.37897/rjp.2015.1.7
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- Article
SMITH-LEMLI-OPITZ SYNDROME WITH SEVERE INVOLVEMENT OF THE ORAL CAVITY IN A TEENAGER.
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- 2016
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- Case Study
Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome.
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- Congenital Heart Disease, 2017, v. 12, n. 4, p. 475, doi. 10.1111/chd.12471
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Surgical implications of the Smith-Lemli-Opitz syndrome.
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- 2005
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- journal article
Smith-Lemli-Opitz-syndrome: How different is the anesthetic technique?
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- 2014
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- Letter to the Editor
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.
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- Clinical Genetics, 2017, v. 92, n. 3, p. 342, doi. 10.1111/cge.12990
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- Article
Characterization of large deletions in the DHCR7 gene.
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- Clinical Genetics, 2015, v. 88, n. 2, p. 149, doi. 10.1111/cge.12454
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- Article
Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 277, doi. 10.1038/ejhg.2014.87
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- Article
7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome.
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- Pflügers Archiv: European Journal of Physiology, 2016, v. 468, n. 8, p. 1403, doi. 10.1007/s00424-016-1851-4
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- Article
Prenatal diagnosis of Smith-Lemli-Opitz syndrome based on recognition of fetal ambiguous genitalia in association with congenital heart disease.
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- Prenatal Cardiology, 2023, p. 1, doi. 10.5114/pcard.2023.135889
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- Article
Smith-Lemli-Opitz Syndrome and the Difficult Airway Algorithm.
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- International Student Journal of Nurse Anesthesia, 2016, v. 15, n. 3, p. 22
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- Article
Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 1, p. 141, doi. 10.3390/ijms19010141
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- Article
LC-MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism.
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- Analytical & Bioanalytical Chemistry, 2015, v. 407, n. 17, p. 5227, doi. 10.1007/s00216-015-8731-1
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- Article
Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas.
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- 2014
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- Publication type:
- Case Study
Development and user evaluation of a rare disease gene prioritization workflow based on cognitive ergonomics.
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- 2019
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- Publication type:
- journal article
GC-MS as a tool for reliable non-invasive prenatal diagnosis of Smith-Lemli-Opitz syndrome but essential also for other cholesterolopathies verification.
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- Ginekologia Polska, 2020, v. 91, n. 5, p. 287, doi. 10.5603/GP.2020.0049
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- Article
Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report.
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- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00924-2
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- Article