Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache [Corrigendum]

2024-8-1

A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1β Gene Mutation Accompanied

2024-7-1

The Diversity of CYP2C19 Polymorphisms in the Thai Population: Implications for Precision Medicine

2024-7-1

Rare Case of de Novo 2p15 Microdeletion Syndrome with Deletion Covering XPO1 and USP34 Genes Diagnosed in a Child – A Case Report

2024-7-1

Comparison of the Accuracy in Provisional Diagnosis of 22q11.2 Deletion and Williams Syndromes by Facial Photos in Thai Population Between De-Identified Facial Program and Clinicians

2024-7-1

Functional Analysis of BRCA1 3’UTR Variants Predisposing to Breast Cancer

2024-5-1

Identification of a Novel Homozygous Mutation in MTMR2 Gene Causes Very Rare Charcot–Marie–Tooth Disease Type 4B1

2024-5-1

Preimplantation Genetic Diagnosis of Androgen Resistance Syndrome Caused by Mutation on the AR Gene in Vietnam

2024-5-1

Application of Chromosomal Microarray Analysis in Genetic Reasons of Miscarriage Tissues

2024-5-1

Optical Genome Mapping Identifies a Novel Unbalanced Translocation Between Chromosomes 4q and 6q Leading to Feeding Difficulties and Hypotonia in a Neonate: A Case Report

2024-5-1

Polymorphisms in Immune Genes and Their Association with Tuberculosis Susceptibility: An Analysis of the African Population

2024-3-1

Preimplantation Genetic Testing for Aneuploidy Could Not Improve Cumulative Live Birth Rate Among 705 Couples with Unexplained Recurrent Implantation Failure

2024-2-1

Healthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function

2024-2-1

Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations

2024-2-1

Vitamin D Receptor Gene Polymorphisms and Association with Vitiligo in Indonesian Population

2023-12-1

Multicenter Study of Diagnostic Tool for Patients with Hemophilia: From Bedside to Comprehensive Investigations

2023-12-1

A New Inherited Syndrome Causing Sudden Cardiac Death with Distinct ST-Segment Depression and Ankyrin-2-Mutation

2023-12-1

The Many Faces of Arrhythmogenic Cardiomyopathy: An Overview

2023-11-1

Eleven Years of Oncogenetic Consultations in a Swiss Center: Patient and Testing Characteristics

2023-11-1

Copy Number Variation in the GSTM1 and GSTT1 Genes and the Risk of Liver Cirrhosis in Eastern Ethiopia

2023-10-1

Evaluating the Frequencies of CNOT3, GRIA1, NFATC2, and PNPLA3 Variant Alleles and Their Association with L-Asparaginase Hypersensitivity in Pediatric Acute Lymphoblastic Leukemia in Addis Ababa, Ethiopia

2023-8-1

Microspherophakic Angle Closure Glaucoma in a Patient with Coffin-Siris Syndrome: Case Report

2023-8-1

Updated Perspectives on the Diagnosis and Management of Familial Adenomatous Polyposis

2023-8-1

Screening Y Chromosome Microdeletion in 1121 Men with Low Sperm Concentration and the Outcomes of Microdissection Testicular Sperm Extraction (mTESE) for Sperm Retrieval from Azoospermic Patients

2023-8-1

Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing

2023-5-1

Adeno-Associated Virus (AAV) - Based Gene Therapies for Retinal Diseases: Where are We?

2023-5-1

Profile of BRAFV600E, BRAFK601E, NRAS, HRAS, and KRAS Mutational Status, and Clinicopathological Characteristics of Papillary Thyroid Carcinoma in Indonesian National Referral Hospital

2023-5-1

A New de novo BRCA1 Mutation in a Young Breast Cancer Patient: A Case Report

2023-5-1

The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas

2023-4-1

Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache

2023-4-1

Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives

2023-3-1

Genetic Links to Episodic Movement Disorders: Current Insights

2023-3-1

Donor Safety, Discrepancies Between Practice and Theory: Analysis of the Polish Supreme Audit Office’s Report

2023-1-1

RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations

2022-10-1

Prenatal Sonographic Features of Rare Chromosome 13 Aberrations

2022-10-1

Three-Decade Successive Establishment of Care for Women/Girls from Families with Haemophilia

2022-9-30

Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in ADGRL3 (LPHN3) and Two Pseudogenes

2022-9-1

ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy

2022-8-1

Long Non-Coding RNAs ASB16-AS1 and AFAP1-AS1: Diagnostic, Prognostic Impact and Survival Analysis in Colorectal Cancer

2022-8-1

Deregulation of CircANXA2, Circ0075001, and CircFBXW7 Gene Expressions and Their Predictive Value in Egyptian Acute Myeloid Leukemia Patients

2022-7-1

Utility of Measuring Fetal Cavum Septum Pellucidum (CSP) Width During Routine Obstetrical Ultrasound for Improving Diagnosis of 22q11.2 Deletion Syndrome: A Case-Control Study

2022-7-1

A Novel POGZ Variant in a Patient with Intellectual Disability and Obesity

2022-7-1

Evaluating the Association Between Genetic Polymorphisms Related to Homocysteine Metabolism and Unexplained Recurrent Pregnancy Loss in Women

2022-6-1

Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation

2022-5-1

Prominent Mutation of Intron 22 Inversion in Sporadic Hemophilia: Is It Worth the Antenatal Screening?

2022-5-1

Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example

2022-5-1

CTLA-4 CT-60 A/G and CTLA-4 1822 C/T Gene Polymorphisms in Indonesians with Type 1 Diabetes Mellitus

2022-4-1

HLA-DQA1 and HLA-DQB1 Gene Polymorphism in Indonesian Children with Type I Diabetes Mellitus

2022-1-1

Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome

2022-1-1

First Two Case Reports of Becker’s Type Myotonia Congenita in Colombia: Clinical and Genetic Features

2021-12-1