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Molecular Syndromology 2023, Vol. 14, No. 4
Editorial - Late Breaking Chromosomes
Shifting the Focus of Molecular Syndromology from Individual Diagnoses to Outcome Analyses
Topic Article Package:
Topic Article Package: ADC (Antibody-Drug Conjugates)
Special Collection:
Karger e-Journal Backfile Collection 2023
Mol Syndromol (2023) 14 (4): 267–269.
https://doi.org/10.1159/000531738
Original Article
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands
Topic Article Package:
Topic Article Package: ADC (Antibody-Drug Conjugates)
Special Collection:
Karger e-Journal Backfile Collection 2023
Lisca Florence Wurfbain; Inge Lucia Cox; Maria Francisca van Dooren; Augusta Maria Antonia Lachmeijer; Virginie Johanna Maria Verhoeven; Johanna Maria van Hagen; Malou Heijligers; Jolien Sietske Klein Wassink - Ruiter; Saskia Koene; Saskia Mariska Maas; Hermine Elisabeth Veenstra - Knol; Johannes Kristian Ploos van Amstel; Maarten Pieter Gerrit Massink; Aebele Barber Mink van der Molen; Marie-José Henriette van den Boogaard
Mol Syndromol (2023) 14 (4): 270–282.
https://doi.org/10.1159/000530256
X-Linked Hydrocephalus with New L1CAM Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic Features
Topic Article Package:
Topic Article Package: ADC (Antibody-Drug Conjugates)
Special Collection:
Karger e-Journal Backfile Collection 2023
Rania R. Ahmed; Amina M. Medhat; Germine M. Hamdy; Laila K.E. Effat; Mohamed S. Abdel-Hamid; Ghada M.H. Abdel-Salam
Mol Syndromol (2023) 14 (4): 283–292.
https://doi.org/10.1159/000529545
A Missense Pathogenic Variant in a Conserved Region of CNTNAP2 Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family
Special Collection:
Karger e-Journal Backfile Collection 2023
Sara Naudhani; Adeel Ahmad; Fariya Khan Bazai; Muhammad Tariq Pervez; Azqa Zafar; Sajjad Ali Shah; Nafeesa Raheem; Abdul Hameed Baloch; Muhammad Mushtaq; Shakeela Daud
Mol Syndromol (2023) 14 (4): 293–302.
https://doi.org/10.1159/000529427
Novel Insights from Clinical Practice
Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development
Special Collection:
Karger e-Journal Backfile Collection 2023
Subject Area:
Genetics
Kosuke Izumi; Rebecca D. Ganetzky; Gerald B.W. Wertheim; Cara M. Skraban; Emma C. Bedoukian; Alisha Wilkens; Christopher Fincher; Nina H. Thomas; Jill P. Ginsberg; Susan R. Rheingold; Laura K. Conlin; Matthew A. Deardorff
Mol Syndromol (2023) 14 (4): 303–309.
https://doi.org/10.1159/000530197
Pure Interstitial Trisomy 11q Arising from a Nonrecurrent 11q13.1q22.3 Mosaic Intrachromosomal Duplication in a Patient with Craniofacial Dysmorphism and Genital Anomalies
Topic Article Package:
Topic Article Package: ADC (Antibody-Drug Conjugates)
Special Collection:
Karger e-Journal Backfile Collection 2023
Daniel Martínez Anaya; María del Rocío Juárez-Velázquez; Sinuhé Reyes Ruvalcaba; María del Pilar Navarrete-Meneses; Consuelo Salas Labadía; Esther Lieberman Hernández; Patricia Pérez-Vera
Mol Syndromol (2023) 14 (4): 310–321.
https://doi.org/10.1159/000528472
DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature
Topic Article Package:
Topic Article Package: ADC (Antibody-Drug Conjugates)
Special Collection:
Karger e-Journal Backfile Collection 2023
Özlem Özsoy; Tayfun Cinleti; Çağatay Günay; Gamze Sarıkaya Uzan; Mehmet Can Yeşilmen; Hanns Lochmüller; Rita Horvath; Uluç Yiş; Yavuz Oktay; Semra Hiz Kurul
Mol Syndromol (2023) 14 (4): 322–330.
https://doi.org/10.1159/000529494
Identification of a Novel de novo Splicing Mutation in Duchenne Muscular Dystrophy Gene in an Iranian Family
Special Collection:
Karger e-Journal Backfile Collection 2023
Mol Syndromol (2023) 14 (4): 331–340.
https://doi.org/10.1159/000528035
Recurrent Mutation (p.Arg718Pro) in the COMP Gene with Clinical Heterogeneity of Pseudoachondroplasia
Special Collection:
Karger e-Journal Backfile Collection 2023
Mol Syndromol (2023) 14 (4): 341–346.
https://doi.org/10.1159/000528980
Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes
Special Collection:
Karger e-Journal Backfile Collection 2023
Mara Grassi; Bernard Laubscher; Amit V. Pandey; Sibylle Tschumi; Franziska Graber; André Schaller; Marco Janner; Daniel Aeberli; Ekkehard Hewer; Jean-Marc Nuoffer; Matthias Gautschi
Mol Syndromol (2023) 14 (4): 347–362.
https://doi.org/10.1159/000529306
