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Volume 3, Issue 5
November 2012
Molecular Syndromology Cover Image for Volume 3, Issue 5
All Issues
ISSN 1661-8769
EISSN 1661-8777
In this Issue

Molecular Syndromology 2012, Vol. 3, No. 5

Title Page / Table of Contents
Mol Syndromol (2012) 3 (5): 191–193. https://doi.org/10.1159/000345553
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Paper

Preface
Olivier Menzel
Mol Syndromol (2012) 3 (5): 195–196. https://doi.org/10.1159/000343778
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High-Throughput Sequencing and Rare Genetic Diseases
P. Makrythanasis; S.E. Antonarakis
Mol Syndromol (2012) 3 (5): 197–203. https://doi.org/10.1159/000343941
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Molecular Genetics of Charcot-Marie-Tooth Disease: From Genes to Genomes
H. Azzedine; J. Senderek; C. Rivolta; R. Chrast
Mol Syndromol (2012) 3 (5): 204–214. https://doi.org/10.1159/000343487
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Mutational Spectrum of Smith-Lemli-Opitz Syndrome Patients in Hungary
I. Balogh; K. Koczok; G.P. Szabó; O. Török; K. Hadzsiev; G. Csábi; L. Balogh; E. Dzsudzsák; É. Ajzner; L. Szabó; V. Csákváry; A.V. Oláh
Mol Syndromol (2012) 3 (5): 215–222. https://doi.org/10.1159/000343923
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A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature
A. Kuechler; J. Hentschel; I. Kurth; B. Stephan; E.-C. Prott; B. Schweiger; A. Schuster; D. Wieczorek; H.-J. Lüdecke
Mol Syndromol (2012) 3 (5): 223–229. https://doi.org/10.1159/000343746
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Readthrough Strategies for Therapeutic Suppression of Nonsense Mutations in Inherited Metabolic Disease
B. Pérez; P. Rodríguez-Pombo; M. Ugarte; L.R. Desviat
Mol Syndromol (2012) 3 (5): 230–236. https://doi.org/10.1159/000343086
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Involvement of Patient Organisations in Research and Development of Orphan Drugs for Rare Diseases in Europe
M. Mavris; Y. Le Cam
Mol Syndromol (2012) 3 (5): 237–243. https://doi.org/10.1159/000342758
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Further Section

Author Index Vol. 3, No. 5, 2012
Mol Syndromol (2012) 3 (5): 244. https://doi.org/10.1159/000345551
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A Novel Compound Heterozygous CYP27A1 Variant in Cerebrotendinous Xanthomatosis: A Case Report from a Non-Consanguineous Family
Erratum - A Patient with Organic Acidemia, Hyperammonemia, and a FBXL4 Variant Suggesting Mitochondrial DNA Depletion Syndrome
Identification of the genetic causes of inherited diseases in a North African biobank: implications for genetic diagnosis
HIRA, NKX2-5 and GATA4 alterations versus cardiac malformations related to 22q11.2 deletion syndrome.
  • Online ISSN 1661-8777
  • Print ISSN 1661-8769
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