Case Reports in Genetics

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Table of Contents

Table of Contents

Case Reports in Genetics -
Special Issue
Volume 2022
- Article ID 4791082
- Case Report

De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome

Rafat Mosalli | Alfia Fatma | ... | Bosco Paes

Case Reports in Genetics -
Special Issue
Volume 2022
- Article ID 9393042
- Case Report

Pitfalls in Genetic Testing for Consanguineous Pediatric Populations

Maha Saleh | Samantha Colaiacovo | ... | Chitra Prasad

Case Reports in Genetics -
Special Issue
Volume 2022
- Article ID 3388879
- Case Report

Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant

Rhea Camille R. Yumul | Mary Anne D. Chiong

Case Reports in Genetics -
Special Issue
Volume 2022
- Article ID 7510079
- Case Report

Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding

Julie Fischer | Luis Rohena

Case Reports in Genetics -
Special Issue
Volume 2022
- Article ID 4153357
- Case Report

Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad

Shir Wey Gloria Pang | Hencher Han Chih Lee | ... | Joannie Hui

Case Reports in Genetics -
Special Issue
Volume 2022
- Article ID 6341207
- Case Series

Cytogenomic Characterization of Giant Ring or Rod Marker Chromosome in Four Cases of Well-Differentiated and Dedifferentiated Liposarcoma

Hongyan Chai | Fang Xu | ... | Peining Li

Case Reports in Genetics -
Special Issue
Volume 2022
- Article ID 6253690
- Case Report

Microdeletion of 4p16.2 in Children: A Case Report and Literature Review

Yanjie Qian | Xiaoying Wang | ... | Chaochun Zou

Case Reports in Genetics -
Special Issue
Volume 2022
- Article ID 1183772
- Case Report

A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy

Hyelin You | David Sierpina

Case Reports in Genetics -
Special Issue
Volume 2022
- Article ID 3239260
- Case Report

Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis

Jonas Gustafson | Maria Bjork | ... | Michael L. Cunningham

Case Reports in Genetics -
Special Issue
Volume 2022
- Article ID 2898553
- Case Report

The Efficacy of Anti-Tumor Necrosis Factor Therapy in Cryopyrin-Associated Periodic Syndromes: A Report of Two Cases

Fatemeh Tahghighi | Mahdieh Vahedi | ... | Vahid Ziaee

Case Reports in Genetics -
Special Issue
Volume 2022
- Article ID 6977041
- Case Report

The Missing LNK: Evolution from Cytosis to Chronic Myelomonocytic Leukemia in a Patient with Multiple Sclerosis and Germline SH2B3 Mutation

Krishna Gundabolu | Bhavana J. Dave | ... | Allison M. Cushman-Vokoun

Case Reports in Genetics -
Special Issue
Volume 2022
- Article ID 2555235
- Case Report

Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature

Amal Al-Naimi | Haneen Toma | ... | Tawfeg Ben Omran

Case Reports in Genetics -
Special Issue
Volume 2021
- Article ID 6636855
- Case Report

A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST Gene

Li Xu | Zijuan Peng | ... | Zhengjun Bao

Case Reports in Genetics -
Special Issue
Volume 2021
- Article ID 2999349
- Case Report

Delayed Diagnosis of McCune–Albright Syndrome

Bereket Fantahun | Seblewongel Desta

Case Reports in Genetics -
Special Issue
Volume 2021
- Article ID 9969071
- Case Report

Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion

Justin Kurtz | Joseph Americo Fernandes | ... | Ali B. Naini

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