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June 2024
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ISSN 1661-8769
EISSN 1661-8777
In this Issue
Molecular Syndromology 2024, Vol. 15, No. 3
Original Article
Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families
Subject Area:
Genetics
Abdulkerim Kolkiran; Pelin Özlem Şimşek-Kiper; Göknur Topaloğlu Yasan; Beren Karaosmanoğlu; Ekim Taşkıran; Gülen Eda Utine; Hakan H. Tüz; Koray Boduroğlu
Mol Syndromol (2024) 15 (3): 175–184.
https://doi.org/10.1159/000535407
Pterin Profiling in Serum, Dried Blood Spot, and Urine Samples Using LC-MS/MS in Patients with Inherited Hyperphenylalaninemia
Subject Area:
Genetics
Rıdvan Murat Öktem; Aslı İnci; Harun Bayrak; Fevzi Demir; Gürsel Biberoğlu; Murat Emrah Maviş; Gökçe Göksu Gürsu; Hazal Yılmaz; İlyas Okur; Fatih Suheyl Ezgü; Leyla Tümer
Mol Syndromol (2024) 15 (3): 185–193.
https://doi.org/10.1159/000535853
Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series
Subject Area:
Genetics
Mol Syndromol (2024) 15 (3): 194–201.
https://doi.org/10.1159/000535888
Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes
Subject Area:
Genetics
Mol Syndromol (2024) 15 (3): 202–210.
https://doi.org/10.1159/000535590
Novel Insights from Clinical Practice
Novel Mutation in the HSD17B10 Gene Accompanied by Dysmorphic Findings in Female Patients
Subject Area:
Genetics
Mol Syndromol (2024) 15 (3): 211–216.
https://doi.org/10.1159/000535589
A Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features
Subject Area:
Genetics
Mol Syndromol (2024) 15 (3): 217–224.
https://doi.org/10.1159/000535681
Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion
Subject Area:
Genetics
Ruy Pires de Oliveira-Sobrinho; Luciana Mota Bispo; Julia Lôndero Heleno; Fernanda Rocha Rojas Ayala; Fabiano Reis; Társis Paiva Vieira; Carlos Eduardo Steiner
Mol Syndromol (2024) 15 (3): 225–231.
https://doi.org/10.1159/000535240
A Novel Homozygous ACBD5 Variant in an Emerging Peroxisomal Disorder Presenting with Retinal Dystrophy and a Review of the Literature
Subject Area:
Genetics
Berfin Ayla Hasturk; Çisem Cinar; Tanyel Zubarioglu; Semra Tiryaki-Demir; Mehmet Serif Cansever; Ertugrul Kiykim; Aysel Kalaycı Yigin; Cengiz Yalcinkaya; Cigdem Aktuglu-Zeybek
Mol Syndromol (2024) 15 (3): 232–239.
https://doi.org/10.1159/000535534
Dual Diagnosis of Nongoitrous Congenital Hypothyroidism-6 and Snijders Blok-Campeau Syndrome
Subject Area:
Genetics
Mol Syndromol (2024) 15 (3): 240–246.
https://doi.org/10.1159/000535682
First Co-Occurrence of Griscelli Syndrome Type 2 and Neurofibromatosis Type 1
Subject Area:
Genetics
Mol Syndromol (2024) 15 (3): 247–250.
https://doi.org/10.1159/000536162
A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene
Subject Area:
Genetics
Eyyup Uctepe; Nefise Kandemir; Firdevs Dinçsoy Bir; Asuman Nur Karhan; Sait Tumer; Emine Busra Ondes; Bahadır Konuskan; Ahmet Yesilyurt
Mol Syndromol (2024) 15 (3): 251–256.
https://doi.org/10.1159/000536072
Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the EPG5 Gene
Subject Area:
Genetics
Arzu Selamioğlu; Burcu Yeter Doğan; Mehmet Cihan Balcı; Tuğba Kalaycı; Meryem Karaca; Belkıs Ak; Aslı Durmuş; Hüseyin Kutay Körbeyli; Gülden Gökçay
Mol Syndromol (2024) 15 (3): 257–268.
https://doi.org/10.1159/000536069
