Found: 15
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Effects of MetAP2 inhibition on hyperphagia and body weight in Prader-Willi syndrome: A randomized, double-blind, placebo-controlled trial.
- Published in:
- Diabetes, Obesity & Metabolism, 2017, v. 19, n. 12, p. 1751, doi. 10.1111/dom.13021
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- Publication type:
- Article
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
- Published in:
- 2019
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- Publication type:
- journal article
Piloting a multidisciplinary approach to improve outcomes of fetal whole exome sequencing: An overview of workflow and case example.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 4, p. 544, doi. 10.1002/pd.6332
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- Publication type:
- Article
Mandatory newborn screening in the United States: History, current status, and existential challenges.
- Published in:
- Birth Defects Research, 2020, v. 112, n. 4, p. 350, doi. 10.1002/bdr2.1653
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- Publication type:
- Article
The Global Prader–Willi Syndrome Registry: Development, Launch, and Early Demographics.
- Published in:
- Genes, 2019, v. 10, n. 9, p. 713, doi. 10.3390/genes10090713
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- Publication type:
- Article
Rare SUZ12 variants commonly cause an overgrowth phenotype.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 532, doi. 10.1002/ajmg.c.31748
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- Publication type:
- Article
Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 7, p. 1696, doi. 10.1210/clinem/dgad015
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- Publication type:
- Article
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-67496-3
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- Publication type:
- Article
Behavioral changes in patients with Prader-Willi syndrome receiving diazoxide choline extended-release tablets compared to the PATH for PWS natural history study.
- Published in:
- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09536-x
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- Publication type:
- Article
McKusick-Kaufman syndrome: the difficulty of establishing a prenatal diagnosis of an uncommon disorder.
- Published in:
- 2010
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- Publication type:
- journal article
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 157, doi. 10.1002/jimd.12448
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- Publication type:
- Article
In Memoriam.
- Published in:
- 2021
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- Publication type:
- Obituary
Thrombosis Risk History and D-dimer Levels in Asymptomatic Individuals with Prader–Willi Syndrome.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 7, p. 2040, doi. 10.3390/jcm11072040
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- Publication type:
- Article
Risk for ingestion of toxic substances in children with Prader-Willi syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2866, doi. 10.1002/ajmg.a.34315
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- Publication type:
- Article
Incidence of strabismus, strabismus surgeries, and other vision conditions in Prader-Willi syndrome: data from the Global Prader-Willi Syndrome Registry.
- Published in:
- 2021
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- Publication type:
- journal article