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Issues

Volume 11, Issue 5-6
December 2020
Molecular Syndromology Cover Image for Volume 11, Issue 5-6
All Issues
ISSN 1661-8769
EISSN 1661-8777

Molecular Syndromology 2020, Vol. 11, No. 5-6

Editorial - Late Breaking Chromosomes

Chromothripsis and Duplications as Underappreciated Genomic Gremlins
Martin Poot
Mol Syndromol (2020) 11 (5-6): 239–242. https://doi.org/10.1159/000512565
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Original Article

Language Impairment with a Partial Duplication of DOCK8
Antonio Benítez-Burraco; Maite Fernández-Urquiza; Mª Salud Jiménez-Romero
Mol Syndromol (2020) 11 (5-6): 243–263. https://doi.org/10.1159/000511972
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A Deep Intronic Variant Activates a Pseudoexon in the MTM1 Gene in a Family with X-Linked Myotubular Myopathy
Jamie Fitzgerald; Cori Feist; Paula Dietz; Stephen Moore; Donald Basel
Mol Syndromol (2020) 11 (5-6): 264–270. https://doi.org/10.1159/000510286
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Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association
Olga M. Moreno; Ana I. Sánchez; Angélica Herreño; Gustavo Giraldo; Fernando Suárez; Juan Carlos Prieto; Ana Shaia Clavijo; Mercedes Olaya; Yaris Vargas; Javier Benítez; Jordi Surallés; Adriana Rojas
Mol Syndromol (2020) 11 (5-6): 271–283. https://doi.org/10.1159/000510910
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Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation
Dalia F. Hussen; Alaa K. Kamel; Mona K. Mekkawy; Engy A. Ashaat; Mona O. El Ruby
Mol Syndromol (2020) 11 (5-6): 284–295. https://doi.org/10.1159/000510428
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Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome
Durdugul Ayyildiz Emecen; Esra Isik; Gulen E. Utine; Pelin O. Simsek-Kiper; Tahir Atik; Ferda Ozkinay
Mol Syndromol (2020) 11 (5-6): 296–301. https://doi.org/10.1159/000511609
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Molecular Etiology of Isolated Congenital Cataract Using Next-Generation Sequencing: Single Center Exome Sequencing Data from Turkey
Hande Taylan Sekeroglu; Beren Karaosmanoglu; Ekim Z. Taskiran; Pelin O. Simsek Kiper; Mehmet Alikasifoglu; Koray Boduroglu; Turgay Coskun; Gulen Eda Utine
Mol Syndromol (2020) 11 (5-6): 302–308. https://doi.org/10.1159/000510481
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Novel Insights from Clinical Practice

Eyes See what the Mind Knows: Clues to Pattern Recognition in Single Enzyme Deficiency-Related Peroxisomal Disorders
Veronica Arora; Sunita Bijarnia-Mahay; Sudhisha Dubey; Renu Saxena
Mol Syndromol (2020) 11 (5-6): 309–314. https://doi.org/10.1159/000510480
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A Novel ELP2 Compound Heterozygous Mutation in a Boy with Severe Intellectual Disability, Spastic Diplegia, Stereotypic Behavior and Review of the Current Literature
Ayberk Turkyilmaz; Gunes Sager
Mol Syndromol (2020) 11 (5-6): 315–319. https://doi.org/10.1159/000510994
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A Case of UDP-Galactose 4′-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway
Christopher A. Febres-Aldana; Liset Pelaez; Meredith S. Wright; Ossama M. Maher; Anthony J. Febres-Aldana; Jun Sasaki; Parul Jayakar; Anuj Jayakar; Magaly Diaz-Barbosa; Michelin Janvier; Bala Totapally; Daria Salyakina; Jorge R. Galvez-Silva
Mol Syndromol (2020) 11 (5-6): 320–330. https://doi.org/10.1159/000511343
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Contents Vol. 11, 2020
Mol Syndromol (2020) 11 (5-6): I–VI. https://doi.org/10.1159/000513765
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A novel HECW2 variant (c.4354G>A; p. Gly1452Ser) in Chinese patient with developmental delay, neurodevelopmental delay and hypotonia
5-Oxoprolinase deficiency and epilepsy: report of four cases with new clinical findings and clinical diversity even in the same family
A novel GATAD2B frameshift variant causes GATAD2B-associated neurodevelopmental disorder with camptodactyly
Focal Dermal Hypoplasia with Unusual Cardiac Anomalies Presentation: Report of Two Cases and Literature Review
  • Online ISSN 1661-8777
  • Print ISSN 1661-8769
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