| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1034196454 |
| P356 | DOI | 10.1186/1471-2431-13-130 |
| P932 | PMC publication ID | 3765797 |
| P698 | PubMed publication ID | 23981649 |
| P5875 | ResearchGate publication ID | 256188376 |
| P50 | author | Vallo Tillmann | Q24546329 |
| Wojciech Młynarski | Q30903317 | ||
| Richard Sinnott | Q42662653 | ||
| Miguel López de Heredia | Q56285827 | ||
| Timothy Barrett | Q56435002 | ||
| Ségolène Aymé | Q62568393 | ||
| Lisbeth Tranebjærg | Q112037899 | ||
| Pietro Maffei | Q124632188 | ||
| P2093 | author name string | Virginia Nunes | |
| Kay Parkinson | |||
| Véronique Paquis-Flucklinger | |||
| Amy Farmer | |||
| Julia Rohayem | |||
| Susan McCafferty | |||
| P2860 | cites work | A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome) | Q22003951 |
| Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein | Q22008011 | ||
| New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey | Q24681777 | ||
| Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness | Q28138591 | ||
| EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome | Q28142981 | ||
| Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4 | Q28242420 | ||
| Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome | Q28589433 | ||
| Cardiac magnetic resonance imaging in Alström syndrome | Q30488583 | ||
| LOVD v.2.0: the next generation in gene variant databases | Q34180504 | ||
| Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome | Q34522307 | ||
| Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on | Q34539342 | ||
| Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. | Q34719042 | ||
| Provision of genetic services in Europe: current practices and issues | Q35626852 | ||
| Hypertriglyceridaemia in Alström's syndrome: causes and associations in 37 cases | Q35630137 | ||
| Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes | Q36216971 | ||
| New insights and therapies for the metabolic consequences of Alström syndrome | Q37529124 | ||
| Wolfram (DIDMOAD) syndrome. | Q41627034 | ||
| Wolfram syndrome: a clinicopathologic correlation | Q42453835 | ||
| Alström syndrome: genetics and clinical overview | Q42813081 | ||
| New Alström syndrome phenotypes based on the evaluation of 182 cases | Q43495083 | ||
| Wolfram syndrome: Evidence of a diffuse neurodegenerative disease by magnetic resonance imaging | Q44596351 | ||
| Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. | Q44844414 | ||
| Alström syndrome and cecal volvulus in 2 siblings | Q50445264 | ||
| Alström syndrome. Report of 22 cases and literature review. | Q50504866 | ||
| Provision of genetic services in Europe: current practices and issues | Q61897274 | ||
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | Alström syndrome | Q432814 |
| rare disease | Q929833 | ||
| Wolfram syndrome | Q1153641 | ||
| Bardet-Biedl syndrome | Q1678281 | ||
| P304 | page(s) | 130 | |
| P577 | publication date | 2013-08-27 | |
| P1433 | published in | BMC Pediatrics | Q15750892 |
| P1476 | title | EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome | |
| P478 | volume | 13 |
| Q35762928 | Alström Syndrome: Mutation Spectrum of ALMS1. |
| Q26744178 | Bardet-Biedl Syndrome |
| Q50352453 | Follicular variant of papillary thyroid cancer in Alström syndrome |
| Q39084940 | Genetic Factors of Diabetes |
| Q38973267 | Genetic evaluation of patients with Alström syndrome in the Polish population. |
| Q36311011 | High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease |
| Q55428316 | Longitudinal hearing loss in Wolfram syndrome. |
| Q42324229 | Mania in Wolfram's Disease: From Bedside to Bench |
| Q91702698 | Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes |
| Q41173481 | Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia |
| Q58805008 | National information system for rare diseases with an approach to data architecture: A systematic review |
| Q92480980 | Novel mutations and the ophthalmologic characters in Chinese patients with Wolfram Syndrome |
| Q39405146 | Oral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease |
| Q30973583 | Patient/family views on data sharing in rare diseases: study in the European LeukoTreat project. |
| Q38635262 | Retinal thickness as a marker of disease progression in longitudinal observation of patients with Wolfram syndrome |
| Q57303417 | The diagnosis and management of monogenic diabetes in children and adolescents |
| Q47959986 | Topical carbonic anhydrase inhibitors in macular edema associated with Alström syndrome |
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