Discovery of a Novel CUL3 Variant: Unveiling Epilepsy and Newly Associated Dysmorphic Traits in a Turkish Patient

2024-9-26

Kniest Dysplasia without Ocular and Auditory Abnormalities in a Boy of 12 Months

2024-9-19

Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy

2024-9-18

Coexistence of Rare Genetic Disorders in a Consanguineous Family: Case Study of KLHL24-Related Hypertrophic Cardiomyopathy and Char Syndrome

2024-9-17

Influence of the IDOL Gene Variants on Low-Density Lipoprotein Cholesterol Levels in Turkish Patients with Familial Hypercholesterolemia

2024-8-30

Exploring the Genetic Etiology of Pediatric Epilepsy: Insights from Targeted Next-Generation Sequence Analysis

2024-8-29

A Unique Derivative Chromosome 4 with a Predominant 4p16.3 Microduplication Phenotype and a Literature Review

2024-8-28

Classification of Brain Magnetic Resonance Imaging Abnormalities and Spectrum of Neurological Findings in a Cohort with Copy Number Variation-Related Disorders

2024-8-23

Plastic Bronchitis in Noonan Syndrome: Further Evidence Suggesting a Higher Risk of Lymphatic Abnormalities in Individuals Harboring Variants in PTPN11 Residue p.Phe285

2024-8-22

Key Clinical and X-Ray Characteristics for the Diagnosis of Kenny-Caffey Syndrome Types 1 and 2

2024-8-22

A Novel Splice Site Variant in <i>KLHL40</i> Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability

2024-8-13

A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus

2024-8-13

Kabuki Syndrome: Case Report of Severe Prenatal Midface Hypoplasia (Binder Phenotype), due to a Novel Variant in the <i>KMT2D</i> Gene

2024-8-8

PACS2, PACS1, and VACTERL: A Clinical Overlap

2024-8-7

Erratum

2024-7-31

Kabuki Syndrome and Charcot-Marie-Tooth Disease Co-Occurrence: Unique Case with Novel Variant

2024-7-29

A Novel Loss-of-Function Variant in COL4A3 in a Consanguineous Moroccan Family Displaying the Alport Syndrome with Variable Clinical Expression

2024-7-24

Homozygous Intragenic Deletion in <i>WDR62</i> in Siblings with Primary Microcephaly

2024-7-20

Mitochondrial DNA Depletion Syndromes Gene Panel versus Clinical Exome Sequencing in Children with Suspected Mitochondrial Hepatopathies

2024-6-17

Investigation of Genetic Changes in Three Families with Bipolar Disease

2024-6-14

Dysmorphic Findings in SAHH Deficiency with a Novel Variant in the <i>AHCY</i> Gene

2024-6-11

Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel <i>LMNA</i> Pathogenic Variant

2024-6-10

Two-Compound Heterozygous Deletions Affecting <i>TUBGCP6</i> in a Patient with Microcephaly and Ocular Abnormalities and in an Unborn Sibling with Abnormal Sulcation

2024-6-10

Clinical and Molecular Cytogenetic Characterization of 2 Sibling Cases with 17q25 Duplication due to Unbalanced Translocation

2024-5-30

<i>RMND1</i> Mutation Case Report and Literature Review

2024-5-22

<i>De novo</i><i>AHDC1</i> Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome

2024-5-20

A Novel <i>NDUFV2</i> Variant in an Asymptomatic Adolescent Girl with Progressive Cavitating Leukoencephalopathy

2024-5-20

Epileptic Encephalopathy of Unknown Cause in Turkey Indicates a New Homozygous <i>NAPB </i>Gene Variant

2024-5-10

Biallelic Deletion of <i>PEX26</i> Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease

2024-4-30

Determination of the Frequency of BCL-2 Polymorphisms (c.-717C>A and c.*2364G>A) and LIF Polymorphism (c.*1414T>G) in Patients with Congenital Anomalies of the Kidney and Urinary Tract

2024-4-24

Clinical and Biochemical Analysis of Glutamate-Cysteine Ligase Deficiency Presented with Late-Onset Spinocerebellar Ataxia and Hemolytic Anemia

2024-4-22

A Recurrent c.416C>T Variant in the B3GAT3 Gene in the Turkish Population: Report of Two Siblings and Expanding the Clinical Spectrum

2024-4-16

A 37-kb Deletion in Region 16p13.3 in an Infant with Osteopetrosis and Congenital Diarrhea Including the CLCN7 and PERCC1 Genes

2024-4-12

Distinct Distribution of HBB Variants in Two Cohorts of Beta Thalassemia Patients, and a Novel Variant from Turkey

2024-4-8

Novel Splice Site Pathogenic Variant in STXBP1 Gene in a Child with Intellectual Disability, Epilepsy, and Autism Spectrum Disorder: A Case Report

2024-4-2

A Novel Missense Variant in the <i>CHST3</i> Underlies Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

2024-3-27

<i>EEF2</i>-Related Neurodevelopmental Disorder Is Clinically Recognizable

2024-3-27

Atlantoaxial Instability due to Os Odontoideum in a Child with Christianson Syndrome

2024-3-27

Microdeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome

2024-3-27

Genetic Variability of <i>SOX10</i>-Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome

2024-3-22

Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with <i>GSX2</i> and <i>PCDH12</i> Variants

2024-3-18

<i>COL12A1</i> Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy

2024-2-26

Delineating the Disease Boundaries: Homozygous <i>CDC14A</i> Variants Underlying Nonsyndromic Hearing Loss and Hearing Impairment Infertile Male Syndrome

2024-2-8

A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene

2024-1-30

Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?

2024-1-1

Further Clinical Delineation of Prolidase Deficiency Associated with c.1103T>G Variant

2024-1-1

First Co-Occurrence of Griscelli Syndrome Type 2 and Neurofibromatosis Type 1

2024-1-1

Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the <i>EPG5</i> Gene

2024-1-1

A Novel <i>ZBTB20</i> Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive Features

2024-1-1

Homozygous Paternally Inherited <i>ASPA</i> Variant in a Patient with Canavan Disease

2024-1-1