Found: 6
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One Novel and One Recurrent Mutation in IGHMBP2 Gene, Causing Severe Spinal Muscular Atrophy Respiratory Distress 1 With Onset Soon After Birth.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Seven Years of Selective Genetic Screening Program and Follow-Up of Asymptomatic Carriers With Hereditary Transthyretin Amyloidosis in Bulgaria.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.844595
- By:
- Publication type:
- Article
SPECIFIC USE OF HEIMATH BY THE PILOTS OF THE GRAND DUCHE OF FINLAND IN THE 19TH CENTURY.
- Published in:
- Journal of Research of the University of Quindio / Revista de Investigaciones Universidad del Quindio, 2022, v. 34, p. 344, doi. 10.33975/riuq.vol34ns2.950
- By:
- Publication type:
- Article
Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C.
- Published in:
- European Neurology, 2016, v. 75, n. 3/4, p. 113, doi. 10.1159/000444480
- By:
- Publication type:
- Article
Gastrointestinal Manifestations in Hereditary Transthyretin Amyloidosis associated with Glu89Gln Mutation.
- Published in:
- Journal of Gastrointestinal & Liver Diseases, 2019, v. 28, n. 4, p. 421, doi. 10.15403/jgld-362
- By:
- Publication type:
- Article
Transthyretin Amyloidosis with Gastrointestinal Manifestation: a Case Report.
- Published in:
- Journal of Gastrointestinal & Liver Diseases, 2019, v. 28, n. 3, p. 359, doi. 10.15403/jgld-422
- By:
- Publication type:
- Article