Works matching IS 17501172 AND DT 2012 AND VI 7 AND IP 1
Results: 156
COG5-CDG: expanding the clinical spectrum.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1750-1172-7-94
- By:
- Publication type:
- Article
Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1750-1172-7-71
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- Publication type:
- Article
Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1750-1172-7-61
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- Publication type:
- Article
Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1750-1172-7-103
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- Publication type:
- Article
Correction: anorectal malformations.
- Published in:
- 2012
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- Publication type:
- Correction Notice
Establishing a network of specialist Porphyria centres - effects on diagnostic activities and services.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1750-1172-7-93
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- Publication type:
- Article
Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1750-1172-7-78
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- Publication type:
- Article
Paying for the Orphan Drug System: break or bend? Is it time for a new evaluation system for payers in Europe to take account of new rare disease treatments?
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1750-1172-7-74
- By:
- Publication type:
- Article
Rescue of nonsense mutations by amlexanox in human cells.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1750-1172-7-58
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- Publication type:
- Article
Pulmonary langerhans cell histiocytosis.
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- 2012
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- Publication type:
- journal article
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations.
- Published in:
- 2012
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- Publication type:
- journal article
Nijmegen breakage syndrome (NBS).
- Published in:
- 2012
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- Publication type:
- journal article
Gastric lactobezoar - a rare disorder?
- Published in:
- 2012
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- Publication type:
- journal article
Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.
- Published in:
- 2012
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- Publication type:
- journal article
Clinical and neurocognitive outcome in symptomatic isovaleric acidemia.
- Published in:
- 2012
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- Publication type:
- journal article
ESR1, HK3 and BRSK1 gene variants are associated with both age at natural menopause and premature ovarian failure.
- Published in:
- 2012
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- Publication type:
- journal article
Chromosome 15q24 microdeletion syndrome.
- Published in:
- 2012
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- Publication type:
- journal article
Congenital diaphragmatic hernia.
- Published in:
- 2012
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- Publication type:
- journal article
Improvement of genetic stability in lymphocytes from Fanconi anemia patients through the combined effect of α-lipoic acid and N-acetylcysteine.
- Published in:
- 2012
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- Publication type:
- journal article
Cystinuria: an inborn cause of urolithiasis.
- Published in:
- 2012
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- Publication type:
- journal article
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure.
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- 2012
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- Publication type:
- journal article
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.
- Published in:
- 2012
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- Publication type:
- journal article
Public support for neonatal screening for Pompe disease, a broad-phenotype condition.
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- 2012
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- Publication type:
- journal article
Endocrine manifestations related to inherited metabolic diseases in adults.
- Published in:
- 2012
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- Publication type:
- journal article
Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula.
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- 2012
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- Publication type:
- journal article
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.
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- 2012
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- Publication type:
- journal article
Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management.
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- 2012
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- Publication type:
- journal article
Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.
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- 2012
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- Publication type:
- journal article
Al amyloidosis.
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- 2012
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- Publication type:
- journal article
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
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- 2012
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- Publication type:
- journal article
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.
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- 2012
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- Publication type:
- journal article
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.
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- 2012
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- Publication type:
- journal article
Genetic testing in diffuse parenchymal lung disease.
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- 2012
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- Publication type:
- journal article
Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.
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- 2012
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- Publication type:
- journal article
A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study.
- Published in:
- 2012
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- Publication type:
- journal article
The empowerment of translational research: lessons from laminopathies.
- Published in:
- 2012
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- Publication type:
- Letter
Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies.
- Published in:
- 2012
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- Publication type:
- journal article
Behçet's disease.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database.
- Published in:
- 2012
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- Publication type:
- journal article
The treatable intellectual disability APP www.treatable-id.org: a digital tool to enhance diagnosis & care for rare diseases.
- Published in:
- 2012
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- Publication type:
- journal article
Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion.
- Published in:
- 2012
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- Publication type:
- journal article
Cushing's disease.
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- 2012
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- Publication type:
- journal article
A national internet-linked based database for pediatric interstitial lung diseases: the French network.
- Published in:
- 2012
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- Publication type:
- journal article
A generalizable pre-clinical research approach for orphan disease therapy.
- Published in:
- 2012
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- Publication type:
- journal article
Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Hypoglycaemia related to inherited metabolic diseases in adults.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Rescue of nonsense mutations by amlexanox in human cells.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Reference percentiles for FEV(1) and BMI in European children and adults with cystic fibrosis.
- Published in:
- 2012
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- Publication type:
- journal article
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
- Published in:
- 2012
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- Publication type:
- journal article