Skip Nav Destination
Issues
Molecular Syndromology 2024, Vol. 15, No. 6
Original Article
A Novel Variant in the Cyto-Tail of SMO Gene Underlying Isolated Postaxial Polydactyly
Subject Area:
Genetics
Muhammad Javed Khan; A. Abdullah; Hammal Khan; Atteaya Zaman; Sohail Ahmed; Palwasha Iqbal; Muhammad Bilal; Kifayat Ullah; Muhammad Sharif Hasni; Imran Ullah; Emily Kathryn Mis; Saquib Ali Lakhani; Wasim Ahmad
Mol Syndromol (2024) 15 (6): 443–449.
https://doi.org/10.1159/000539279
Mitochondrial DNA Depletion Syndromes Gene Panel versus Clinical Exome Sequencing in Children with Suspected Mitochondrial Hepatopathies
Subject Area:
Genetics
Neslihan Doğulu; Engin Köse; Serdar Ceylaner; Çiğdem Seher Kasapkara; Ayşe Ergul Bozaci; Ummuhan Oncul; Fatma Tuba Eminoğlu
Mol Syndromol (2024) 15 (6): 450–463.
https://doi.org/10.1159/000539034
Investigation of Genetic Changes in Three Families with Bipolar Disease
Subject Area:
Genetics
Esra Çolak-Geniş; Müjdan Özdemir Erdoğan; Fethi Sırrı Çam; Ömer Aydemir; Funda Akin; Hamide Betül Gerik-Celebi; Mustafa Solak
Mol Syndromol (2024) 15 (6): 464–473.
https://doi.org/10.1159/000539115
Screening for TSEN54 Variants in Egyptian Patients with Pontocerebellar Malformations
Subject Area:
Genetics
Bayoumi A. Emam; Mohamed S. Abdel-Hamid; Maha Eid; Marian Girgis; Omar A. Ragab; Maha S. Zaki; Hassan El-Kiki; Sawsan Abdel-Hady; Ghada M.H. Abdel-Salam
Mol Syndromol (2024) 15 (6): 474–480.
https://doi.org/10.1159/000539364
Novel Insights from Clinical Practice
A Novel NDUFV2 Variant in an Asymptomatic Adolescent Girl with Progressive Cavitating Leukoencephalopathy
Subject Area:
Genetics
Mol Syndromol (2024) 15 (6): 481–486.
https://doi.org/10.1159/000538900
RMND1 Mutation Case Report and Literature Review
Subject Area:
Genetics
Mol Syndromol (2024) 15 (6): 487–494.
https://doi.org/10.1159/000538930
Clinical and Molecular Cytogenetic Characterization of 2 Sibling Cases with 17q25 Duplication due to Unbalanced Translocation
Subject Area:
Genetics
Mol Syndromol (2024) 15 (6): 495–502.
https://doi.org/10.1159/000538979
Two-Compound Heterozygous Deletions Affecting TUBGCP6 in a Patient with Microcephaly and Ocular Abnormalities and in an Unborn Sibling with Abnormal Sulcation
Subject Area:
Genetics
Mol Syndromol (2024) 15 (6): 503–516.
https://doi.org/10.1159/000539099
Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel LMNA Pathogenic Variant
Subject Area:
Genetics
Yasmina Rahmuni; Youssef El Kadiri; Jaber Lyahyai; Nezha Birouk; Mounir Nesnassi; Abdelaziz Sefiani; Ilham Ratbi
Mol Syndromol (2024) 15 (6): 517–522.
https://doi.org/10.1159/000538917
Microdeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome
Subject Area:
Genetics
Ruy Pires de Oliveira-Sobrinho; Rare Genomes Project Consortium; Társis Paiva Vieira; Carlos Eduardo Steiner
Mol Syndromol (2024) 15 (6): 523–530.
https://doi.org/10.1159/000538012
Dysmorphic Findings in SAHH Deficiency with a Novel Variant in the AHCY Gene
Subject Area:
Genetics
Mol Syndromol (2024) 15 (6): 531–536.
https://doi.org/10.1159/000539280
Brief Report
Whole Exome Sequencing of a Multiplex Family of Indian Origin Identifies Variants in the RAI1 and FLII Genes within the 17p11.2 Region in Siblings with Autism and Smith Magenis Syndrome
Subject Area:
Genetics
Durbagula Srividhya; Snijesh Valiya Parambath; Ranganayaki Sathyanarayanan; Aparna Huligerepura Sosalegowda; Aruna Korlimarla; Ashitha S. Niranjana Murthy; Nishant Prabhakaran; Meghana Vijayanand; Naveen Kumar Chandappa Gowda
Mol Syndromol (2024) 15 (6): 537–544.
https://doi.org/10.1159/000539400
Erratum
Erratum - Innovating Therapies for Down Syndrome: An International Virtual Conference of the T21 Research Society
Subject Area:
Genetics
Mol Syndromol (2024) 15 (6): 545.
https://doi.org/10.1159/000534309
Erratum - Investigation of Genetic Changes in Three Families with Bipolar Disease
Subject Area:
Genetics
Mol Syndromol (2024) 15 (6): 546.
https://doi.org/10.1159/000540035
Acknowledgement to Reviewers
Acknowledgement to Reviewers
Subject Area:
Genetics
Mol Syndromol (2024) 15 (6): 547.
https://doi.org/10.1159/000542125
Contents Vol. 15, 2024
Subject Area:
Genetics
Mol Syndromol (2024) 15 (6): I.
https://doi.org/10.1159/000542611