Molecular Syndromology

Publisher： Karger

Founded in： 2010

Total resources： 43

E-ISSN： 1661-8777

ISSN： 1661-8769

Subject： R3 Basic Medical

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Molecular Syndromology

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Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report

Molecular Syndromology , Vol. 8, Iss. 5, 2017-07 , pp. 272-277

Karger

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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

Molecular Syndromology , Vol. 8, Iss. 5, 2017-06 , pp. 261-265

Karger

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Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases

Molecular Syndromology , Vol. 8, Iss. 5, 2017-06 , pp. 244-252

Karger

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Genetic Testing in a Cohort of Complex Esophageal Atresia

Molecular Syndromology , Vol. 8, Iss. 5, 2017-06 , pp. 236-243

Karger

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Novel Mutation of the RUNX2 Gene in Patients with Cleidocranial Dysplasia

Molecular Syndromology , Vol. 8, Iss. 5, 2017-06 , pp. 253-260

Karger

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Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test

Molecular Syndromology , Vol. 8, Iss. 5, 2017-06 , pp. 227-235

Karger

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Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders

Molecular Syndromology , Vol. 8, Iss. 5, 2017-06 , pp. 266-271

Karger

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Adding Insult to Injury, Complexity to Intricacy

Molecular Syndromology , Vol. 8, Iss. 5, 2017-06 , pp. 225-226

Karger

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Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes

Molecular Syndromology , Vol. 8, Iss. 4, 2017-06 , pp. 187-194

Karger

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A Novel Pathogenic Variant in the MITF Gene Segregating with a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred

Molecular Syndromology , Vol. 8, Iss. 4, 2017-05 , pp. 195-200

Karger

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