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Volume 4, Issue 5
June 2013
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ISSN 1661-8769
EISSN 1661-8777

Molecular Syndromology 2013, Vol. 4, No. 5

Editorial

From Single Locus Mendelian Syndromes to Multilocus Genetic-Epigenetic Networks in Human Genetics
M. Poot
Mol Syndromol (2013) 4 (5): 211–212. https://doi.org/10.1159/000350003
View articletitled, From Single Locus Mendelian Syndromes to Multilocus Genetic-Epigenetic Networks in Human Genetics
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Review Article

Towards Identification of Individual Etiologies by Resolving Genomic and Biological Conundrums in Patients with Autism Spectrum Disorders
M. Poot
Mol Syndromol (2013) 4 (5): 213–226. https://doi.org/10.1159/000350041
View articletitled, Towards Identification of Individual Etiologies by Resolving Genomic and Biological Conundrums in Patients with Autism Spectrum Disorders
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Short Report

Noonan Syndrome: Comparing Mutation-Positive with Mutation-Negative Dutch Patients
E.A. Croonen; W. Nillesen; C. Schrander; M. Jongmans; H. Scheffer; C. Noordam; J.M.T. Draaisma; I. van der Burgt; H.G. Yntema
Mol Syndromol (2013) 4 (5): 227–234. https://doi.org/10.1159/000350686
View articletitled, Noonan Syndrome: Comparing Mutation-Positive with Mutation-Negative Dutch Patients
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Original Article

More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated
N. Corsten-Janssen; S.C. Saitta; L.H. Hoefsloot; D.M. McDonald-McGinn; D.A. Driscoll; R. Derks; K.A. Dickinson; W.S. Kerstjens-Frederikse; B.S. Emanuel; E.H. Zackai; C.M.A. van Ravenswaaij-Arts
Mol Syndromol (2013) 4 (5): 235–245. https://doi.org/10.1159/000351127
View articletitled, More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated
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Short Report

Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome
S. Spengler; B. Oehl-Jaschkowitz; M. Begemann; P. Hennes; K. Zerres; T. Eggermann
Mol Syndromol (2013) 4 (5): 246–249. https://doi.org/10.1159/000351765
View articletitled, Haploinsufficiency of <strong><em>ANKRD11</em></strong> (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome
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Original Article

De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia
I. Papoulidis; A. Vetro; K. Kefalas; S. Orru; L. Thomaidis; Z. Iliodromiti; O. Zuffardi; E. Manolakos
Mol Syndromol (2013) 4 (5): 250–254. https://doi.org/10.1159/000351656
View articletitled, De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia
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Influence of the IDOL Gene Variants on Low-Density Lipoprotein Cholesterol Levels in Turkish Patients with Familial Hypercholesterolemia
Exploring the Genetic Etiology of Pediatric Epilepsy: Insights from Targeted Next-Generation Sequence Analysis
A Unique Derivative Chromosome 4 with a Predominant 4p16.3 Microduplication Phenotype and a Literature Review
Classification of Brain Magnetic Resonance Imaging Abnormalities and Spectrum of Neurological Findings in a Cohort with Copy Number Variation-Related Disorders
  • Online ISSN 1661-8777
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