Works matching DE "ANTLEY-Bixler syndrome phenotype"
Results: 12
Antley-Bixler Syndrome: Surgical Management of Ambiguous Genitalia - A Case Report.
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- Medical Principles & Practice, 2014, v. 23, n. 4, p. 384, doi. 10.1159/000356857
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- Article
Pharmacogenomics of human P450 oxidoreductase.
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- Frontiers in Pharmacology, 2014, v. 5, p. 1, doi. 10.3389/fphar.2014.00103
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- Article
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.
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- Pediatric Radiology, 2015, v. 45, n. 7, p. 965, doi. 10.1007/s00247-014-3257-9
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- Article
Cytochrome P450 oxidoreductase deficiency: Rare congenital disorder leading to skeletal malformations and steroidogenic defects.
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- Pediatrics International, 2014, v. 56, n. 6, p. 805, doi. 10.1111/ped.12518
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- Article
Multidisciplinary Treatment of Antley-Bixler Syndrome.
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- Cleft Palate Craniofacial Journal, 2017, v. 54, n. 1, p. 100, doi. 10.1597/15-217
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- Article
Cytochrome P450 Oxidoreductase Deficiency with Antley-Bixler Syndrome: Steroidogenic Capacities.
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- Journal of Pediatric Endocrinology & Metabolism, 2009, v. 22, n. 5, p. 469, doi. 10.1515/JPEM.2009.22.5.469
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- Article
RETRACTED ARTICLE: Fetal methotrexate syndrome and Antley-Bixler syndrome should not be confused.
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- 2018
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- journal article
A CASE OF ANTLEY BIXLER SYNDROME: DIAGNOSIS AND OUTCOME.
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- 2012
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- Case Study
Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review.
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- Journal of Ovarian Research, 2017, v. 10, p. 1, doi. 10.1186/s13048-017-0312-9
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- Article
Non-classic cytochrome P450 oxidoreductase deficiency strongly linked with menstrual cycle disorders and female infertility as primary manifestations.
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- 2020
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- Publication type:
- journal article
Conditional Deletion of Cytochrome P450 Reductase in Osteoprogenitor Cells Affects Long Bone and Skull Development in Mice Recapitulating Antley-Bixler Syndrome: Role of a Redox Enzyme in Development.
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- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0075638
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- Article
Multisynaptic Projections from the Amygdala to the Ventral Premotor Cortex in Macaque Monkeys: Anatomical Substrate for Feeding Behavior.
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- Frontiers in Neuroanatomy, 2018, p. 1, doi. 10.3389/fnana.2018.00003
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- Article