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

Karger e-Journal Backfile Collection 2023

Productbuilder Managed Product
Acknowledgement to Reviewers
https://doi.org/10.1159/000534746
Contents Vol. 14, 2023
https://doi.org/10.1159/000535256
Commentary
Laboratory and Genotype Relationship of Patients with SDHA-Related Mitochondrial Disease
Burcu Civelek Ürey; Ahmet Cevdet Ceylan; Büşranur Cavdarlı; Ayşegül Neşe Çıtak Kurt; Oya Kıreker Köylü; Burak Yürek; Çiğdem Seher Kasapkara
https://doi.org/10.1159/000531668
Novel Insights from Clinical Practice
Dandy-Walker Malformation in a Girl with DDX3X- Related Intellectual Disability
Karima Rafat; Mohamed S. Abdel-Hamid; Ghada M.H. Abdel-Salam
https://doi.org/10.1159/000531715
Novel Insights from Clinical Practice
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
Faranak Roudbari; Amir-Reza Dallal Amandi; Mortaza Bonyadi; Leyla Sadeghi; Neda Jabbarpour
https://doi.org/10.1159/000531566
Original Article
TRAPPC9 -Related Intellectual Disability: Report of Two New Cases and Review of the Literature
Eyyup Uctepe; Ahmet Yesilyurt; Fatma Nisa Esen; Sait Tümer; Hanifenur Mancılar; Fatma Mujgan Sonmez
https://doi.org/10.1159/000531439
Novel Insights from Clinical Practice
Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child
Hatice Ceren Eser; Durdugul Ayyildiz Emecen; Ezgi Topyildiz; Esra Isik; Neslihan Edeer Karaca; Tahir Atik; Guzide Aksu; Ferda Ozkinay; Necil Kutukculer
https://doi.org/10.1159/000531408
Novel Insights from Clinical Practice
Further Evidence for RFWD3 Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the Literature
Sinem Kocagil; İkbal Nur Şafak; Elif Saraç; Can Aydın; Sevilhan Artan; Birgül Kırel
https://doi.org/10.1159/000531429
Editorial - Late Breaking Chromosomes
Shifting the Focus of Molecular Syndromology from Individual Diagnoses to Outcome Analyses
Martin Poot
https://doi.org/10.1159/000531738
Original Article
Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review
Aida Ghasemi; Zahra Sadr; Mojgan Babanejad; Mohammad Rohani; Afagh Alavi
https://doi.org/10.1159/000531507
Commentary
SDHA Variants Can Only Be Classified as Causative Once Their Pathogenicity Has Been Proven
Josef Finsterer
https://doi.org/10.1159/000531506
Original Article
Detection of Modified Histones from Oral Mucosa of a Patient with DYT- KMT2B Dystonia
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
https://doi.org/10.1159/000530625
Original Article
Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation
Muhammad Bilal; Tobias B. Haack; Rebecca Buchert; Susana Peralta; Imtiaz Ahmad; Faisal; Sanaullah Abbasi; Wasim Ahmad
https://doi.org/10.1159/000531069
Original Article
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands
Lisca Florence Wurfbain; Inge Lucia Cox; Maria Francisca van Dooren; Augusta Maria Antonia Lachmeijer; Virginie Johanna Maria Verhoeven; Johanna Maria van Hagen; Malou Heijligers; Jolien Sietske Klein Wassink - Ruiter; Saskia Koene; Saskia Mariska Maas; Hermine Elisabeth Veenstra - Knol; Johannes Kristian Ploos van Amstel; Maarten Pieter Gerrit Massink; Aebele Barber Mink van der Molen; Marie-José Henriette van den Boogaard
https://doi.org/10.1159/000530256
Novel Insights from Clinical Practice
A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene
Tuna Eren Esen; Özlem Ünal Uzun; Ahmet Cevdet Ceylan
https://doi.org/10.1159/000530798
A Genetics Study in the Foreskin of Boys with Hypospadias
Irem Inanc; Dincer Avlan; Damla Eker; Hakan Gurkan
https://doi.org/10.1159/000527405
Clinical and Genetic Characteristics of Patients with Unexplained Intellectual Disability/Developmental Delay without Epilepsy
Hamide Betul Gerik-Celebi; Hilal Aydin; Hilmi Bolat; Gul Unsel-Bolat
https://doi.org/10.1159/000529018
Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome
Naz Güleray Lafcı; Beren Karaosmanoglu; Ekim Z. Taskiran; Pelin Ozlem Simsek-Kiper; Gülen Eda Utine
https://doi.org/10.1159/000528769
Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly
Muhammad Bilal; Tobias B. Haack; Rebecca Buchert; Susana Peralta; Najum Uddin; Raja Hussain Ali; Khurram Liaqat; Wasim Ahmad
https://doi.org/10.1159/000528651
The New Youngest Case of Grange Syndrome with a Novel Biallelic Pathogenic Variant in YY1AP1
Taner Karakaya; Ayberk Turkyilmaz; Deniz Eris; Mehtap Kaya; Kupra Oksuz; Meltem Aygul Eryigit; Gizem Gönen
https://doi.org/10.1159/000527785
  • 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