Genetic basis of hyperlysinemiaMalignant atrophic papulosis (Köhlmeier-Degos disease) - a reviewA review of trisomy X (47,XXX)Paraneoplastic neurological syndromesCorneal dystrophiesDopamine beta-hydroxylase deficiencyKlinefelter syndrome and other sex chromosomal aneuploidiesCongenital contractural arachnodactyly (Beals syndrome)Nasopharyngeal carcinomaPfeiffer syndromeNo evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndromeIgG4- related disease: an orphan disease with many facesRecommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s)Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohortsEPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness.Possible effects of EXT2 on mesenchymal differentiation--lessons from the zebrafishX-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutationHamartomatous polyposis syndromes: a reviewManagement of adult patients with Langerhans cell histiocytosis: recommendations from an expert panel on behalf of Euro-Histio-NetMutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduriaThe phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAPWeekly oral alendronate in mevalonate kinase deficiencyErdheim-Chester Disease: a comprehensive review of the literaturePhenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasiaCherubism: best clinical practiceClinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational studySuggested guidelines for the diagnosis and management of urea cycle disordersReview of Dercum's disease and proposal of diagnostic criteria, diagnostic methods, classification and managementSpectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patientNijmegen breakage syndrome (NBS)The hyperimmunoglobulin E syndrome--clinical manifestation diversity in primary immune deficiencyA rare bladder cancer--small cell carcinoma: review and updateSpinal muscular atrophyAtypical hemolytic uremic syndromeUnderstanding the impact of 1q21.1 copy number variantClassification, diagnosis and potential mechanisms in pontocerebellar hypoplasiaEfficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West GermanyMachado-Joseph Disease: from first descriptions to new perspectives.Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics
P1433
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P1433
description
revista científica
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revue scientifique
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rivista scientifica
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scientific journal
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wetenschappelijk tijdschrift van BioMed Central
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науковий журнал
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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OJRD
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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5700191213
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P1476
Orphanet Journal of Rare Diseases
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