Women's and Children's Health

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Novel Insights from Clinical Practice

A Novel Loss-of-Function Variant in COL4A3 in a Consanguineous Moroccan Family Displaying the Alport Syndrome with Variable Clinical Expression

Oumayma Taroua; Omar Askander; Hakima Rhou; Ahmed Bouhouche

https://doi.org/10.1159/000540122

Novel Insights from Clinical Practice

Homozygous Intragenic Deletion in WDR62 in Siblings with Primary Microcephaly

Suzena M. Singh; Rajesh K. Maurya; Amita Moirangthem

https://doi.org/10.1159/000540108

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

Durbagula Srividhya; Snijesh Valiya Parambath; Ranganayaki Sathyanarayanan; Aparna Huligerepura Sosalegowda; Aruna Korlimarla; Ashitha S. Niranjana Murthy; Nishant Prabhakaran; Meghana Vijayanand; Naveen Kumar Chandappa Gowda

https://doi.org/10.1159/000539400

Original Article

Screening for TSEN54 Variants in Egyptian Patients with Pontocerebellar Malformations

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

https://doi.org/10.1159/000539364

Original Article

A Novel Variant in the Cyto-Tail of SMO Gene Underlying Isolated Postaxial Polydactyly

Muhammad Javed Khan; 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

https://doi.org/10.1159/000539279

Original Article

Mitochondrial DNA Depletion Syndromes Gene Panel versus Clinical Exome Sequencing in Children with Suspected Mitochondrial Hepatopathies

Neslihan Doğulu; Engin Köse; Serdar Ceylaner; Çiğdem Seher Kasapkara; Ayşe Ergul Bozaci; Ummuhan Oncul; Fatma Tuba Eminoğlu

https://doi.org/10.1159/000539034

Novel Insights from Clinical Practice

Dysmorphic Findings in SAHH Deficiency with a Novel Variant in the AHCY Gene

Kismet Ciki; Ceren Alavanda

https://doi.org/10.1159/000539280

Novel Insights from Clinical Practice

Two-Compound Heterozygous Deletions Affecting TUBGCP6 in a Patient with Microcephaly and Ocular Abnormalities and in an Unborn Sibling with Abnormal Sulcation

Swasti Pal; Samarth Kulshrestha; Neha Garg; Deepti Gupta; Nandita Dimri Gupta; Ratna Dua Puri

https://doi.org/10.1159/000539099

Novel Insights from Clinical Practice

Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel LMNA Pathogenic Variant

Yasmina Rahmuni; Youssef El Kadiri; Jaber Lyahyai; Nezha Birouk; Mounir Nesnassi; Abdelaziz Sefiani; Ilham Ratbi

https://doi.org/10.1159/000538917

Novel Insights from Clinical Practice

Clinical and Molecular Cytogenetic Characterization of 2 Sibling Cases with 17q25 Duplication due to Unbalanced Translocation

Na Chen; Wenshan Zeng; Yuqin Luo; Minyue Dong

https://doi.org/10.1159/000538979

Novel Insights from Clinical Practice

RMND1 Mutation Case Report and Literature Review

Harun Bayrak; Abdullah Sezer; Mustafa Kılıç

https://doi.org/10.1159/000538930

Novel Insights from Clinical Practice

A Novel NDUFV2 Variant in an Asymptomatic Adolescent Girl with Progressive Cavitating Leukoencephalopathy

Emine Caliskan; Safiye Gunes Sager; Akif Ayaz; Kerem Teralı; Hediye Pinar Gunbey

https://doi.org/10.1159/000538900

Acknowledgement to Reviewers

https://doi.org/10.1159/000534746

Contents Vol. 14, 2023

https://doi.org/10.1159/000535256

Original Article

Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels

Gamze Sarıkaya Uzan; Ceren Yılmaz Uzman; Tayfun Çinleti; Çağatay Günay; Ayfer Ülgenalp; Semra Hiz Kurul; Uluç Yiş

https://doi.org/10.1159/000533976

Original Article

A Deeper Insight into COL4A3 , COL4A4 , and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome

Cüneyd Yavaş; Nehir Ozdemir Ozgenturk; Mustafa Dogan; Alper Gezdirici; Ece Keskin; Ezgi Gokpınar İli; Tunay Dogan; Evrim Celebi; Onur Bender; Cemal Un

https://doi.org/10.1159/000533915

Original Article

TPP1 Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2

Nahid Vafaei; Ali Mohebbi; Zahra Rezaei; Morteza Heidari; Sareh Hosseinpour; Ali Zare Dehnavi; Azin Ghamari; Masoud Salehipour; Ali Rabbani; Nejat Mahdieh; Mahmoud Reza Ashrafi

https://doi.org/10.1159/000534100

Original Article

Association of ABCA13 Gene Variants with Autism Spectrum Disorder and Other Neuropsychiatric Disorders

Hamide Betul Gerik-Celebi; Gul Unsel-Bolat; Hilmi Bolat

https://doi.org/10.1159/000534123

Erratum

Erratum - Innovating Therapies for Down Syndrome: An International Virtual Conference of the T21 Research Society

https://doi.org/10.1159/000534309

Original Article

Analysis of Dopamine Receptor D2 Gene Polymorphism and Correlation with Dyslipidemia in the Chinese Population

Haibo Tan; Zhixue Wang; Jiaxuan Zhang; Maohua Huang; Jide Chen; Fengqi Li; Liangjun Tang

https://doi.org/10.1159/000533637