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Issues

Volume 8, Issue 5
August 2017
Molecular Syndromology Cover Image for Volume 8, Issue 5
All Issues
ISSN 1661-8769
EISSN 1661-8777

Molecular Syndromology 2017, Vol. 8, No. 5

Editorial - Late Breaking Chromosomes

Adding Insult to Injury, Complexity to Intricacy
Martin Poot
Mol Syndromol (2017) 8 (5): 225–226. https://doi.org/10.1159/000477230
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Original Article

Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test
Rejane A.C. Monteiro; Mariana L. de Freitas; Gabrielle S. Vianna; Valdirene T. de Oliveira; Rafaella X. Pietra; Luana C.A. Ferreira; Patrícia P.O. Rocha; Michele da S. Gonçalves; Giovana da C. César; Joziele de S. Lima; Paula F.V. Medeiros; Juliana F. Mazzeu; Fernanda S. Jehee
Mol Syndromol (2017) 8 (5): 227–235. https://doi.org/10.1159/000477226
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Genetic Testing in a Cohort of Complex Esophageal Atresia
Eliane Beauregard-Lacroix; Jessica Tardif; Emmanuelle Lemyre; Zoha Kibar; Christophe Faure; Philippe M. Campeau
Mol Syndromol (2017) 8 (5): 236–243. https://doi.org/10.1159/000477429
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Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases
Ilária C. Sgardioli; Matheus de Mello Copelli; Fabíola P. Monteiro; Ana P. dos Santos; Elaine Lustosa Mendes; Társis Paiva Vieira; Vera L. Gil-da-Silva-Lopes
Mol Syndromol (2017) 8 (5): 244–252. https://doi.org/10.1159/000477598
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Novel Mutation of the RUNX2 Gene in Patients with Cleidocranial Dysplasia
Ewa Hordyjewska; Anna Jaruga; Grzegorz Kandzierski; Przemko Tylzanowski
Mol Syndromol (2017) 8 (5): 253–260. https://doi.org/10.1159/000477307
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A Novel Loss-of-Function Mutation in HOXB1 Associated with Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family
Mohammad Yahya Vahidi Mehrjardi; Reza Maroofian; Seyed M. Kalantar; Mojtaba Jaafarinia; John Chilton; Mohammadreza Dehghani
Mol Syndromol (2017) 8 (5): 261–265. https://doi.org/10.1159/000477752
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Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders
Beatrice Oneda; Reza Asadollahi; Silvia Azzarello-Burri; Dunja Niedrist; Rosa Baldinger; Rahim Masood; Albert Schinzel; Bea Latal; Oskar G. Jenni; Anita Rauch
Mol Syndromol (2017) 8 (5): 266–271. https://doi.org/10.1159/000477189
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Novel Insights from Clinical Practice

Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report
Amelie T. van der Ven; Shirlee Shril; Hadas Ityel; Asaf Vivante; Jing Chen; Daw-Yang Hwang; Kristen M. Laricchia; Monkol Lek; Velibor Tasic; Friedhelm Hildebrandt
Mol Syndromol (2017) 8 (5): 272–277. https://doi.org/10.1159/000477750
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A new family with X-linked intellectual disability-90: A case report of a novel DLG3 variant and literature review
Abnormal PAR1/2 number can influence effector T cell subsets in Turner syndrome
High Diagnostic Yield of Next Generation Sequencing in Charcot Marie Tooth Patients and a Novel Variant in the NDRG1 Gene
Erratum - Siblings with a Homozygous Variant in the NHP2 Gene: A Case Report and Review of Literature
  • Online ISSN 1661-8777
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