Found: 26
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Insulin-Like Growth Factor-I, Insulin-Like Growth factor Binding Protein-3 and Blood Hemoglobin Concentration in an Elderly Population.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Insulin-Like Growth Factor I, Insulin-like Growth factor Binding Protein 3, and Atrial Fibrillation in the Elderly.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Insulin-Like Growth Factor I, Insulin-like Growth factor Binding Protein 3, and Atrial Fibrillation in the Elderly.
- Published in:
- Journals of Gerontology Series A: Biological Sciences & Medical Sciences, 2014, v. 69, n. 8, p. 1025, doi. 10.1093/gerona/glt206
- By:
- Publication type:
- Article
Erratum to: An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A.
- Published in:
- 2016
- By:
- Publication type:
- Correction Notice
An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 234, doi. 10.1186/s13023-014-0199-0
- By:
- Publication type:
- Article
An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis.
- Published in:
- British Journal of Haematology, 2023, v. 201, n. 4, p. e46, doi. 10.1111/bjh.18760
- By:
- Publication type:
- Article
A call for accurate phenotype definition in the study of complex disorders.
- Published in:
- 2004
- By:
- Publication type:
- Letter
Multiple thrombosis in a patient with Gardos channelopathy and a new KCNN4 mutation.
- Published in:
- American Journal of Hematology, 2021, v. 96, n. 9, p. E318, doi. 10.1002/ajh.26245
- By:
- Publication type:
- Article
Neuroprotective Effect of Erythropoietin against Pressure Ulcer in a Mouse Model of Small Fiber Neuropathy.
- Published in:
- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0113454
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- Publication type:
- Article
Optimized Protocol to Generate Spinal Motor Neuron Cells from Induced Pluripotent Stem Cells from Charcot Marie Tooth Patients.
- Published in:
- Brain Sciences (2076-3425), 2020, v. 10, n. 7, p. 407, doi. 10.3390/brainsci10070407
- By:
- Publication type:
- Article
CNS/PNS Boundary Transgression by Central Glia in the Absence of Schwann Cells or Krox20/Egr2 Function.
- Published in:
- Journal of Neuroscience, 2010, v. 30, n. 17, p. 5958, doi. 10.1523/JNEUROSCI.0017-10.2010
- By:
- Publication type:
- Article
Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.
- Published in:
- European Journal of Endocrinology, 2013, v. 168, n. 2, p. K27, doi. 10.1530/EJE-12-0714
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- Publication type:
- Article
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
- Published in:
- Brain: A Journal of Neurology, 2005, v. 128, n. 10, p. 2304
- By:
- Publication type:
- Article
Exome sequencing for diagnosis of congenital hemolytic anemia.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy.
- Published in:
- Annals of Neurology, 2012, v. 71, n. 5, p. 719, doi. 10.1002/ana.23527
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- Publication type:
- Article
Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy.
- Published in:
- Annals of Neurology, 2002, v. 52, n. 3, p. 374, doi. 10.1002/ana.10299
- By:
- Publication type:
- Article
Central nervous system complications in adult cystinosis patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 348, doi. 10.1002/jimd.12164
- By:
- Publication type:
- Article
Nerve biopsy: requirements for diagnosis and clinical value.
- Published in:
- Acta Neuropathologica, 2011, v. 121, n. 3, p. 313, doi. 10.1007/s00401-011-0804-4
- By:
- Publication type:
- Article
A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy.
- Published in:
- Human Mutation, 2011, v. 32, n. 9, p. 989, doi. 10.1002/humu.21528
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- Publication type:
- Article
Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics.
- Published in:
- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00425-9
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- Publication type:
- Article
Recurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1352006
- By:
- Publication type:
- Article
Multiplex Detection and Genotyping of Point Mutations Involved in Charcot-Marie-Tooth Disease Using a Hairpin Microarray-Based Assay.
- Published in:
- Biochemistry Research International, 2009, p. 1, doi. 10.1155/2009/960560
- By:
- Publication type:
- Article
Extracardiac soft tissue uptake, evidenced on early 99mTc-HMDP SPECT/CT, helps typing cardiac amyloidosis and demonstrates high prognostic value.
- Published in:
- European Journal of Nuclear Medicine & Molecular Imaging, 2020, v. 47, n. 10, p. 2396, doi. 10.1007/s00259-020-04753-7
- By:
- Publication type:
- Article
Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene.
- Published in:
- Journal of the Peripheral Nervous System, 2019, v. 24, n. 4, p. 354, doi. 10.1111/jns.12352
- By:
- Publication type:
- Article
CMT4D ( NDRG1 mutation): genotype-phenotype correlations.
- Published in:
- Journal of the Peripheral Nervous System, 2013, v. 18, n. 3, p. 261, doi. 10.1111/jns5.12039
- By:
- Publication type:
- Article