Skip to Main Content
S. Karger AG
header search
Search
Advanced Search
Skip Nav Destination

Further Areas


Book Series

Translational Research in Biomedicine
Contributions to Microbiology
Frontiers of Radiation Therapy and Oncology

Journals

Digital Biomarkers
Microbial Physiology
Complementary Medicine Research
Urologia Internationalis

Special Collection Image
Brief Report
A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19
Giulia Parmeggiani; Raffaella Minardi; Antonella Boni; Jacopo Pruccoli; Antonella Pini; Laura Licchetta; Francesca Bisulli; Claudio Graziano; Marco Seri
10.1159/000535144
Acknowledgement to Reviewers
10.1159/000534746
Contents Vol. 14, 2023
10.1159/000535256
Novel Insights from Clinical Practice
Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome
Elisa Rahikkala; Taneli Väisänen; Liisa Ojala; Pia Pohjola; Minna Toivonen; Riitta Parkkola; Maria K. Haanpää
10.1159/000534772
Novel Insights from Clinical Practice
A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency
Hacer Basan; Emine Azak; İbrahim İlker Çetin; Esra Kılıç; Berrak Bilginer Gürbüz; Sümeyra Zeynep Özbey; Çiğdem Seher Kasapkara
10.1159/000534932
Novel Insights from Clinical Practice
A Homozygous Missense Variant in HSD17B4 Identified in Two Different Families
Pınar Özkan Kart; Yavuz Sahin; Nihal Yıldız; Alper Han Cebi; Gulnur Esenulku; Ali Cansu
10.1159/000534785
Novel Insights from Clinical Practice
A Novel Variant in AKAP9 Gene, a Controversial Gene, in Long QT Syndrome
Murat Erdogan; Suleyman Sunkak; Oguzhan Bahadır; Muhammet Ensar Doğan; Yasin Ada; Burhan Balta
10.1159/000534624
Novel Insights from Clinical Practice
Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis
Aysenur Engin Erdal; Oya Kıreker Köylü; Ahmet Cevdet Ceylan; Çiğdem Seher Kasapkara; Ebru Tunçez; Meral Topçu
10.1159/000534587
Novel Insights from Clinical Practice
Reanalysis of Whole-Exome Sequencing Data of an Infant with Suspected Diagnosis of Jeune Syndrome Revealed a Likely Pathogenic Variant in GRK2: A Newly Associated Gene for Jeune Syndrome Phenotype
Vehap Topcu; Said Furkan Yildirim; Husnu Mutlu Turan
10.1159/000534031
Novel Insights from Clinical Practice
Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report
Zhour El Amrani; Abdelhafid Natiq; Aziza Sbiti; Ilham Ratbi; Thomas Liehr; Abdelaziz Sefiani; Maryem Sahli
10.1159/000534432
Novel Insights from Clinical Practice
Coexistence of Two Rare Conditions Complicating the Other’s Management: Propionic Acidemia and Apert Syndrome
Cansu Kethuda Ensert Cihan; Halil Tuna Akar; Yılmaz Yıldız; Merve Sogukpinar; Gulen Eda Utine; Hasan Tolga Çelik
10.1159/000534380
Original Article
Detecting a Novel NOTCH3 Variant in Patients with Suspected CADASIL: A Single Center Study
Zeynep Selcan Şanli; Özlem Anlaş
10.1159/000534243
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
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
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
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
10.1159/000534123
Erratum
Erratum - Innovating Therapies for Down Syndrome: An International Virtual Conference of the T21 Research Society
10.1159/000534309
Novel Insights from Clinical Practice
A Rare Presentation of Homozygous Pathogenic Variant in MC2R Gene with Salt-Wasting Crisis in a Neonate
Aysenur Kardas Yildiz; Ali Bulbul; Buse Ozer Bekmez; Ayberk Turkyilmaz; Kerem Terali; Aydilek Dagdeviren Cakir; Ahmet Ucar
10.1159/000533986
Original Article
Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G>A Variant, and Implications for Genetic Diagnosis
Karam Yahya Belmokhtar; Imane Cherkaoui; Saida Lhousni; Mounia Elidrissi Errahhali; Manal Elidrissi Errahhali; Majida Charif; Redouane Boulouiz; Meryem Ouarzane; Aziza Elouali; Ayad Ghanam; Abdeladim Babakhouya; Maria Rkain; Noufissa Benajiba; Mohammed Bellaoui
10.1159/000533894
Novel Insights from Clinical Practice
Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the EZH2 Gene
Yasemin Kendir-Demirkol; Burcu Yeter; Laura A. Jenny
10.1159/000533733
  • Online ISSN 1661-8777
  • Print ISSN 1661-8769
Close Modal
This Feature Is Available To Subscribers Only

or Create an Account

Close Modal
Close Modal