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December 2023
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ISSN 1661-8769
EISSN 1661-8777
In this Issue
Molecular Syndromology 2023, Vol. 14, No. 6
Commentary
SDHA Variants Can Only Be Classified as Causative Once Their Pathogenicity Has Been Proven
Special Collection:
Karger e-Journal Backfile Collection 2023
Mol Syndromol (2023) 14 (6): 457–458.
https://doi.org/10.1159/000531506
Laboratory and Genotype Relationship of Patients with SDHA-Related Mitochondrial Disease
Special Collection:
Karger e-Journal Backfile Collection 2023
Burcu Civelek Ürey; Ahmet Cevdet Ceylan; Büşranur Cavdarlı; Ayşegül Neşe Çıtak Kurt; Oya Kıreker Köylü; Burak Yürek; Çiğdem Seher Kasapkara
Mol Syndromol (2023) 14 (6): 459–460.
https://doi.org/10.1159/000531668
Original Article
Detection of Modified Histones from Oral Mucosa of a Patient with DYT-KMT2B Dystonia
Special Collection:
Karger e-Journal Backfile Collection 2023
Naoto Sugeno; Takafumi Hasegawa; Kazuhiro Haginoya; Takafumi Kubota; Kensuke Ikeda; Takaaki Nakamura; Shun Ishiyama; Kazuki Sato; Shun Yoshida; Eriko Koshimizu; Mitsugu Uematsu; Satoko Miyatake; Naomichi Matsumoto; Masashi Aoki
Mol Syndromol (2023) 14 (6): 461–468.
https://doi.org/10.1159/000530625
Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation
Special Collection:
Karger e-Journal Backfile Collection 2023
Muhammad Bilal; Tobias B. Haack; Rebecca Buchert; Susana Peralta; Imtiaz Ahmad; Faisal; Sanaullah Abbasi; Wasim Ahmad
Mol Syndromol (2023) 14 (6): 469–476.
https://doi.org/10.1159/000531069
Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review
Special Collection:
Karger e-Journal Backfile Collection 2023
Mol Syndromol (2023) 14 (6): 477–484.
https://doi.org/10.1159/000531507
TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature
Special Collection:
Karger e-Journal Backfile Collection 2023
Mol Syndromol (2023) 14 (6): 485–492.
https://doi.org/10.1159/000531439
Novel Insights from Clinical Practice
Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review
Special Collection:
Karger e-Journal Backfile Collection 2023
Subject Area:
Genetics
Carlo Alberto Cesaroni; Carlotta Spagnoli; Margherita Baga; Susanna Rizzi; Daniele Frattini; Stefano Giuseppe Caraffi; Marzia Pollazzon; Livia Garavelli; Carlo Fusco
Mol Syndromol (2023) 14 (6): 493–497.
https://doi.org/10.1159/000530586
A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene
Special Collection:
Karger e-Journal Backfile Collection 2023
Subject Area:
Genetics
Mol Syndromol (2023) 14 (6): 498–503.
https://doi.org/10.1159/000530798
Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child
Special Collection:
Karger e-Journal Backfile Collection 2023
Subject Area:
Genetics
Hatice Ceren Eser; Durdugul Ayyildiz Emecen; Ezgi Topyildiz; Esra Isik; Neslihan Edeer Karaca; Tahir Atik; Guzide Aksu; Ferda Ozkinay; Necil Kutukculer
Mol Syndromol (2023) 14 (6): 504–508.
https://doi.org/10.1159/000531408
Further Evidence for RFWD3 Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the Literature
Special Collection:
Karger e-Journal Backfile Collection 2023
Subject Area:
Genetics
Mol Syndromol (2023) 14 (6): 509–515.
https://doi.org/10.1159/000531429
Identification of a de novo, Novel Pathogenic Variant in the Splice Region of the SOX10 Gene in an Iranian Azeri Turkish Family with Waardenburg Syndrome
Special Collection:
Karger e-Journal Backfile Collection 2023
Subject Area:
Genetics
Mol Syndromol (2023) 14 (6): 516–522.
https://doi.org/10.1159/000531566
Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability
Special Collection:
Karger e-Journal Backfile Collection 2023
Subject Area:
Genetics
Mol Syndromol (2023) 14 (6): 523–529.
https://doi.org/10.1159/000531715
Acknowledgement to Reviewers
Special Collection:
Karger e-Journal Backfile Collection 2023
Mol Syndromol (2023) 14 (6): 530.
https://doi.org/10.1159/000534746
Contents Vol. 14, 2023
Special Collection:
Karger e-Journal Backfile Collection 2023
Mol Syndromol (2023) 14 (6): 531–536.
https://doi.org/10.1159/000535256
