Found: 10
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Multiparametric characterization of white matter alterations in early stage Huntington disease.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-92532-1
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- Publication type:
- Article
No effect of triheptanoin on exercise performance in McArdle disease.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 10, p. 1949, doi. 10.1002/acn3.50863
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- Publication type:
- Article
A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 877, doi. 10.1007/s10545-017-0103-x
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- Publication type:
- Article
A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism.
- Published in:
- Clinical Endocrinology, 2015, v. 82, n. 6, p. 876, doi. 10.1111/cen.12706
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- Publication type:
- Article
Recessive Isolated Growth Hormone Deficiency and Mutations in the Ghrelin Receptor.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 11, p. 4334, doi. 10.1210/jc.2009-1327
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- Publication type:
- Article
Unusual Phenotypic Features in a Patient with a Novel Splice Mutation in the GHRHR Gene.
- Published in:
- Molecular Medicine, 2008, v. 14, n. 5/6, p. 286, doi. 10.2119/2007-00128.Hilal
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- Publication type:
- Article
Novel HESX1 Mutations Associated with a LifeThreatening Neonatal Phenotype, Pituitary Aplasia, but Normally Located Posterior Pituitary and No Optic Nerve Abnormalities.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 11, p. 4528, doi. 10.1210/jc.2006-0426
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- Publication type:
- Article
Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature.
- Published in:
- Journal of Clinical Investigation, 2006, v. 116, n. 3, p. 760, doi. 10.1172/JCI25303
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- Publication type:
- Article
Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary.
- Published in:
- Human Mutation, 2005, v. 25, n. 5, p. 503, doi. 10.1002/humu.9332
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- Publication type:
- Article