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Issues

Volume 9, Issue 6
January 2019
Molecular Syndromology Cover Image for Volume 9, Issue 6
All Issues
ISSN 1661-8769
EISSN 1661-8777

Molecular Syndromology 2018, Vol. 9, No. 6

Editorial - Late Breaking Chromosomes

HNRNPU: Key to Neurodevelopmental Disorders such as Intellectual Delay, Epilepsy, and Autism
Martin Poot
Mol Syndromol (2019) 9 (6): 275–278. https://doi.org/10.1159/000495204
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Syndrome Conferences, Symposia or Workshops

Paving the Way for Therapy: The Second International Conference of the Trisomy 21 Research Society
Roger H. Reeves; Jean Delabar; Marie-Claude Potier; Anita Bhattacharyya; Elizabeth Head; Cynthia Lemere; Alain D. Dekker; Peter De Deyn; Pablo Caviedes; Mara Dierssen; Jorge Busciglio
Mol Syndromol (2019) 9 (6): 279–286. https://doi.org/10.1159/000494231
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Original Article

Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature
Jana Behunova; Maria Gerykova Bujalkova; Gabriel Gras; Thomas Taylor; Ulrike Ihm; Susanne Kircher; Helga Rehder; Franco Laccone
Mol Syndromol (2019) 9 (6): 287–294. https://doi.org/10.1159/000494451
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Novel Insights from Clinical Practice

Clinical Transcriptome Sequencing Confirms Activation of a Cryptic Splice Site in Suspected SYNGAP1-Related Disorder
Elise Brimble; Christopher Lee-Messer; Peter L. Nagy; Jennifer Propst; Maura R.Z. Ruzhnikov
Mol Syndromol (2019) 9 (6): 295–299. https://doi.org/10.1159/000492706
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17p13.1 Microduplication Syndrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the Literature
Sofia Leka-Emiri; Vassilios Petrou; Emmanouil Manolakos; Loretta Thomaidis; Aspasia Fotinou; Elpis Vlachopapadopoulou; Stefanos Michalacos
Mol Syndromol (2019) 9 (6): 300–305. https://doi.org/10.1159/000494681
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Thrombocytopenia and Predisposition to Acute Myeloid Leukemia due to Mosaic Ring 21 with Loss of RUNX1: Cytogenetic and Molecular Characterization
Erica Vormittag-Nocito; Hongyu Ni; Mary L. Schmidt; Valerie Lindgren
Mol Syndromol (2019) 9 (6): 306–311. https://doi.org/10.1159/000494645
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Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome
Veronica Arora; Shruti Aggarwal; Sunita Bijarnia; Meena Lall; Anju Joshi; Ratna Dua-Puri; Umang Arora; Ishwar Verma
Mol Syndromol (2019) 9 (6): 312–318. https://doi.org/10.1159/000494995
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Short Report

COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants
Pratibha Nair; Maher Lama; Stephany El-Hayek; Gretta Abou Sleymane; Samantha Stora; Marc Obeid; Mahmoud T. Al-Ali; Valérie Delague; André Mégarbané
Mol Syndromol (2019) 9 (6): 319–323. https://doi.org/10.1159/000494465
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8p11 Microduplication Is Associated with Neonatal Stridor
Surasak Puvabanditsin; Natalie Gengel; Christina Botti; Marianne Jacob; Maaz Jalil; Kenya Cabrera; Rajeev Mehta
Mol Syndromol (2019) 9 (6): 324–327. https://doi.org/10.1159/000494796
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Contents Vol. 9, 2018
Mol Syndromol (2019) 9 (6): I–IV. https://doi.org/10.1159/000496174
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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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