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Volume 2, Issue 6
April 2012
Molecular Syndromology Cover Image for Volume 2, Issue 6
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ISSN 1661-8769
EISSN 1661-8777
In this Issue

Molecular Syndromology 2011, Vol. 2, No. 6

Original Article

In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome
D. Wolff; S. Endele; S. Azzarello-Burri; J. Hoyer; M. Zweier; I. Schanze; B. Schmitt; A. Rauch; A. Reis; C. Zweier
Mol Syndromol (2012) 2 (6): 237–244. https://doi.org/10.1159/000337323
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Short Report

A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome
A.T. Vulto-van Silfhout; A.P.M. de Brouwer; N. de Leeuw; C.C. Obihara; H.G. Brunner; B.B.A. de Vries
Mol Syndromol (2012) 2 (6): 245–250. https://doi.org/10.1159/000336191
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LEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene
E. Martínez-Quintana; F. Rodríguez-González
Mol Syndromol (2012) 2 (6): 251–253. https://doi.org/10.1159/000335995
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Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis
M. Matsushita; H. Kitoh; H. Kaneko; K. Mishima; Y. Itoh; T. Hattori; N. Ishiguro
Mol Syndromol (2012) 2 (6): 254–258. https://doi.org/10.1159/000336581
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Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation
C. Palka; M. Alfonsi; A. Mohn; P. Guanciali Franchi; F. Chiarelli; G. Calabrese
Mol Syndromol (2012) 2 (6): 259–261. https://doi.org/10.1159/000337925
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Abstracts

RE(ACT)® International Congress on Research on Rare and Orphan Diseases
Mol Syndromol (2012) 2 (6): 262–288. https://doi.org/10.1159/000336858
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Further Section

Contents Vol. 2, 2011
Mol Syndromol (2012) 2 (6): I–IV. https://doi.org/10.1159/000338522
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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.
Pamidronate Treatment of a patient with Opsismodysplasia and a novel INPPL1 variant – Efficacy, Mechanism and Clinical Outcomes
Targeted Clinical Analysis of PTPN11, SOS1, and NRAS Mutations and Associated Cardiac, Auditory, and Ophthalmologic Findings in Noonan Syndrome Patients
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