<i>ANXA5</i> and <i>VEGFA</i> Gene Variants in Women with Early Pregnancy Losses from North Macedonia

2024-6-1

The Spectrum and Frequency of Cystic Fibrosis Mutations in Albanian Patients

2024-6-1

The Impact of the COVID-19 Pandemic on Individuals with Down Syndrome: A Croatian Survey

2024-6-1

High-Resolution HLA-DRB1 Allele Frequencies in a Romanian Cohort of Stem Cell Donors

2024-6-1

Ultra-Early Diffuse Lung Disease in an Infant with Pathogenic Variant in Telomerase Reverse Transcriptase (<i>TERT</i>) Gene

2024-6-1

IGHV Mutational Status in a Cohort of Bulgarian CLL Patients: High Unmutated CLL Prevalence in North-East Bulgaria

2024-6-1

The Importance of Molecular Biological Analysis for the Laboratory Diagnostic of Homozygous Haemoglobin Malay

2024-6-1

Meaning and Clinical Interest of Minor Malformations and Normal Variants in Neonatology

2024-6-1

Comparison of FGF-8, FGF-10, FGF-Receptor 2, Androgen Receptor, Estrogen Receptor-A and SS in Healthy and Hypospadiac Children

2024-6-1

Novel DGAT1 Mutations Identified in Congenital Diarrheal Disorder 7: A Case Report with Therapeutic Experience

2024-6-1

Association Between the Polymorphism of Angiotensin-Converting Enzyme Gene and Interleukin-1 Beta Gene and the Response to Erythropoietin Therapy in Dialysis Patients with Anemia

2023-12-1

Determination of the Relationship Between DNA Methylation Status of <i>KLOTHO</i> and <i>ARNTL</i> Genes With Hypertension

2023-12-1

Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21

2023-12-1

Severe Form of Salih Myopathy Caused by Combination of Two Heterozygous TTN Mutations

2023-12-1

Experience with the Ketogenic Diet in a Boy with <i>CLCN4</i> Related Neurodevelopmental Disorder

2023-12-1

Co-Existence of <i>CYP2C19</i>*1/*2 and <i>ABCB1c</i>.3435 CT Genotype has a Potential Impact on Clinical Outcome in CAD Patients Treated with Clopidogrel

2023-12-1

Chromosomal Abnormalities in Early Pregnancy Losses: A Study of 900 Samples

2023-12-1

Droplet Digital PCR as a Molecular Tool for the Detection of the <i>EGFR</i> T790M Mutation in NSCLC Patients with the <i>EGFR</i> Activating Mutations

2023-12-1

Preimplantation Genetic Testing within the Public Healthcare System in Slovenia

2023-12-1

<i>EPHA4</i> Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay

2023-12-1

Do Gene Polymorphisms Play a Role in Newborn Hyperbilirubinemia?

2023-12-1

Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report

2023-12-1

Preventable Hazards from in Vitro Fertilization – A Case Series of CF Patients from Bulgaria

2023-7-1

Features of the Wolf-Hirschhorn Syndrome (WHS) from Infant to Young Teenager

2023-7-1

Differentially Expressed Circulating Long-Noncoding RNAS in Premature Infants with Respiratory Distress Syndrome

2023-7-1

Prognostic Value of <i>CYP1A2</i> (rs2069514 and rs762551) Polymorphisms in COVID-19 Patients

2023-7-1

Two Brothers from Macedonia with Gitelman Syndrome

2023-7-1

Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency

2023-7-1

Difficulties in Diagnosing Fabry Disease in Patients with Unexplained Left Ventricular Hypertrophy (LVH): Is the Novel GLA Gene Mutation a Pathogenic Mutation or Polymorphism?

2023-7-1

The Predisposition for Type 2 Diabetes Mellitus and Metabolic Syndrome

2023-7-1

Non-Invasive Screening Test Paradox in a Case Born with Mixed Gonadal Dysgenesis (45,X/46,Xy)

2023-7-1

Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials

2023-7-1

Association of rs35006907 Polymorphism with Risk of Dilated Cardiomyopathy in Han Chinese Population

2023-7-1

Androgen Insensitivity Syndrome DUE to Non-Coding Variation in the Androgen Receptor Gene: Review of the Literature and Case Report of a Patient with Mosaic c.-547C&gt;T Variant

2023-7-1

<i>BRCA 1/BRCA 2</i> Pathogenic/Likely Pathogenic Variant Patients with Breast, Ovarian, and Other Cancers

2022-12-1

Adipocyte “Fatty Acid Binding Protein” Gene Polymorphisms (<i>rs1054135, rs16909196</i> and <i>rs16909187</i>) in Jordanians with Obesity and Type 2 Diabetes Mellitus

2022-12-1

Analysis of Mitochondrial Transfer RNA Mutations in Breast Cancer

2022-12-1

<i>SLC26A2</i> Related Diastrophic Dysplasia in 42-Years Ukrainian Women

2022-12-1

High Risk of Gestational Trophoblastic Neoplasia Development in Recurrent Hydatidiform Moles with <i>NLRP7</i> Pathogenic Variations

2022-12-1

Molecular Characterization of Microrna Interference and Aristolochic Acid Intoxication Found in Upper Tract Urothelial Carcinoma in Patients with Balkan Endemic Nephropathy: A Systematic Review of the Current Literature

2022-12-1

Rare and New Mutations of B-Globin in Azari Population of Iran, a Considerable Diversity

2022-12-1

Epidermal Growth Factor Receptor Mutation Status and the Impact on Clinical Outcomes in Patients with Non-Small Cell Lung Cancer

2022-12-1

A New Clock is Running for Multiple Myeloma: Circadian Clock Protein-Period 3 (PER-3) Polymorphism

2022-12-1

Congenital Hepatic Fibrosis as an Early Sign of Presentation of ADPKD

2022-12-1

KDM3A, a Novel Blood-Based Biomarker in Colorectal Carcinogenesis

2022-12-1

Semilobar Holoprosencephaly Caused by a Novel and De Novo<i>ZIC2</i>Pathogenic Variant

2022-12-1

Unusual Manifestation of Extraosseous Ewing Sarcoma: Report of 3 Cases

2022-12-1

APOE4 Status and cognitive function in middle-aged and elderly people

2022-6-1

A novel likely pathogenic variant in the <i>RUNX1</i> gene as the cause of congenital thrombocytopenia

2022-6-1

A novel <i>Loss-of-function</i> Mutation in <i>MYBPC3</i> Causes familial hypertrophic cardiomyopathy with extreme intrafamilial phenotypic heterogeneity

2022-6-1