Case Reports in Genetics

/ Table of Contents: 2023

Table of Contents

Table of Contents: 2023

Case Reports in Genetics -
Special Issue
Volume 2023
- Article ID 4553365
- Case Report

A Novel SPAST Variant Associated with Isolated Spastic Paraplegia

Helle Høyer | Ola Nakken | Trygve Holmøy

Case Reports in Genetics -
Special Issue
Volume 2023
- Article ID 9127430
- Case Report

A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening

Melissa A. Hicks | Emilie Lalonde | ... | Salah Ebrahim

Case Reports in Genetics -
Special Issue
Volume 2023
- Article ID 6722623
- Case Report

A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH Levels

Kousar Jahan Syeeda Khursheed | Mohammed Rahman Kaleemullah | ... | Moiz Bakhiet

Case Reports in Genetics -
Special Issue
Volume 2023
- Article ID 1692422
- Case Report

Mosaicism in BRPF1-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review

Khaliunaa Bayanbold | Georgianne Younger | ... | Alpa Sidhu

Case Reports in Genetics -
Special Issue
Volume 2023
- Article ID 7974886
- Case Report

A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia

Luna Bajracharya | Meena Lall | ... | Praveen Suman

Case Reports in Genetics -
Special Issue
Volume 2023
- Article ID 6679572
- Case Report

Behavioral Phenotype, Electroclinical Features, and Treatment Options in Twins with Lrp2 Candidate Variants (Donnay–Barrow/Foar Syndrome)

Alessia Mingarelli | Giovanni Battista Pipitone | ... | Federico Raviglione

Case Reports in Genetics -
Special Issue
Volume 2023
- Article ID 4225092
- Case Report

An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader–Willi Syndrome

Molly M. Crenshaw | Sharon L. Graw | ... | Peter Baker

Case Reports in Genetics -
Special Issue
Volume 2023
- Article ID 6614837
- Case Report

Recurrent Ischemic Strokes due to Monogenic COL4A1 Mutation: The First Case Report from Latin America

Emilio Israel Wong-Valenzuela | Daniel San Juan | ... | Alejandro Lopez-Landa

Case Reports in Genetics -
Special Issue
Volume 2023
- Article ID 9950421
- Case Report

Coinheritance of the c.-19 G > C and c.315 + 1 G > A Variants in the β-Globin Gene Leads to Thalassemia Disease: A Report from the North of Iran

Hossein Jalali | Mahan Mahdavi | ... | Mohammad Reza Mahdavi

Case Reports in Genetics -
Special Issue
Volume 2023
- Article ID 5535083
- Case Report

Novel TTN Mutation Causing Severe Congenital Myopathy and Uncertain Association with Infantile Hydrocephalus

Palanikumar Balasundaram | Indirapriya Darshini Avulakunta | ... | Katie R. Forman

Case Reports in Genetics -
Special Issue
Volume 2023
- Article ID 3437706
- Case Report

A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant

Michael Gibbs | Alysa Poulin | ... | Bita Hashemi

Case Reports in Genetics -
Special Issue
Volume 2023
- Article ID 9127512
- Case Report

45, X/ 46, X, psu idic (Y) (q11.2) Mosaicism in a Primary Amenorrhea Girl with Swyer Syndrome

Yu Han | Jiebin Wu | ... | Xuezhen Wang

Case Reports in Genetics -
Special Issue
Volume 2023
- Article ID 5958223
- Case Report

Prenatal Lethal Diagnosis of 8p23.1 Duplication Syndrome Associated with Omphalocele and Encephalocele

Melissa A. Hicks | Salah Ebrahim | Bernard Gonik

Case Reports in Genetics -
Special Issue
Volume 2023
- Article ID 4592114
- Case Report

4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay

Yukino Kawanami | Tomoko Horinouchi | ... | Kandai Nozu

Case Reports in Genetics -
Special Issue
Volume 2023
- Article ID 3636748
- Case Report

Manifestations of Intellectual Disability, Dystonia, and Parkinson’s Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup)

Maria Arvio | Jaana Lähdetie | ... | Eero Pekkonen

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