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Volume 3, Issue 6
January 2013
Molecular Syndromology Cover Image for Volume 3, Issue 6
All Issues
ISSN 1661-8769
EISSN 1661-8777

Molecular Syndromology 2012, Vol. 3, No. 6

Editorial

Genetics and Epigenetics Collide at HDAC8 in Region Xq13.1
Martin Poot
Mol Syndromol (2013) 3 (6): 245–246. https://doi.org/10.1159/000343747
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Original Article

Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly
J.A. Rosenfeld; K.H. Kim; B. Angle; R. Troxell; J.L. Gorski; M. Westemeyer; M. Frydman; Y. Senturias; D. Earl; B. Torchia; R.A. Schultz; J.W. Ellison; K. Tsuchiya; S. Zimmerman; T.A. Smolarek; B.C. Ballif; L.G. Shaffer
Mol Syndromol (2013) 3 (6): 247–254. https://doi.org/10.1159/000345578
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A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family
S. Ben-Salem; M.A. Begum; B.R. Ali; L. Al-Gazali
Mol Syndromol (2013) 3 (6): 255–261. https://doi.org/10.1159/000345653
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Live-Born Trisomy 22: Patient Report and Review
T. Heinrich; I. Nanda; M. Rehn; U. Zollner; E. Frieauff; J. Wirbelauer; T. Grimm; M. Schmid
Mol Syndromol (2013) 3 (6): 262–269. https://doi.org/10.1159/000346189
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Case Report

Segmental Maternal UPD6 with Prenatal Growth Restriction
Topic Article Package: Topic Article Package: Diabetes
G. Poke; M. Doody; J. Prado; M. Gattas
Mol Syndromol (2013) 3 (6): 270–273. https://doi.org/10.1159/000345168
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Original Article

Gain of FAM123B and ARHGEF9 in an Obese Man with Intellectual Disability, Congenital Heart Defects and Multiple Supernumerary Ring Chromosomes
R. Hochstenbach; M.E. van Gijn; P.-J. Krijtenburg; R. Raemakers; R. van ’t Slot; I. Renkens; M.J. Eleveld; J.J. van der Smagt; M. Poot
Mol Syndromol (2013) 3 (6): 274–283. https://doi.org/10.1159/000345241
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Short Report

Genotyping FOXG1 Mutations in Patients with Clinical Evidence of the FOXG1 Syndrome
D.W. Pratt; J.V. Warner; M.G. Williams
Mol Syndromol (2013) 3 (6): 284–287. https://doi.org/10.1159/000345845
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Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome
B. Xin; H. Wang
Mol Syndromol (2013) 3 (6): 288–290. https://doi.org/10.1159/000345924
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Contents Vol. 3, 2012
Mol Syndromol (2013) 3 (6): I–IV. https://doi.org/10.1159/000346816
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Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynosytosis, Ectrodactyly and Skeletal Anomaly (DECES) Spectrum
First Reported Co-occurrence of Bardet-Biedl Syndrome Type 10 and Autism Spectrum Disorder: A Case Report and Clinical Review
Genetic analysis strategy for diagnosing congenital heart disease
A rare case of Bardet-Biedl syndrome caused by a heterozygous point variant in BBS7 and a CNV involved BBS7
  • Online ISSN 1661-8777
  • Print ISSN 1661-8769
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