Issue Information

2024-9-1

The genetic analysis of eight families with hemophilia B in Mongolia: Identification of two novel mutation

2024-9-1

Proximal 4p Deletion Syndrome in an Infant With Multiple Systemic Anomalies

2024-9-1

Frameshift Mutation in <scp><i>PAX2</i></scp> Related to Focal Segmental Glomerular Sclerosis: A Case Report and Literature Review

2024-9-1

A Novel Heterozygous Intronic <scp>FBN1</scp> Variant Contributes to Aberrant <scp>RNA</scp> Splicing in Marfan Syndrome

2024-9-1

Analysis of the Haematological Phenotype and Molecular Characteristics of Rare Abnormal Haemoglobin

2024-9-1

Incorporating Next‐Generation Sequencing as a Second‐Tier Test for Primary Carnitine Deficiency

2024-9-1

Association between <scp>MAPK</scp> and <scp>PI3K</scp>/Akt signaling pathway‐related gene polymorphisms and migraine

2024-8-1

Dramatic Clinical Improvement With Biotin Mega‐Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency

2024-8-1

The face of Non‐photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population

2024-8-1

Genetic testing and new variants in diagnosis of congenital ichthyoses

2024-8-1

Genetic Manifestations and Phenotype Spectrum in Infants With Feeding Difficulty

2024-8-1

Hereditary breast cancer next‐generation sequencing panel evaluation in the south region of Brazil: A novel <i>BRCA2</i> candidate pathogenic variant is reported

2024-8-1

Whole paternal uniparental disomy of chromosome 4 with a novel homozygous <i>IDUA</i> splicing variant, c.159‐9T&gt;A, in a Chinese patient with mucopolysaccharidosis type I

2024-8-1

Correction to “Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I”

2024-8-1

Maculopathy and adult‐onset ataxia in patients with biallelic <scp><i>MFSD8</i></scp> variants

2024-8-1

Genetics healthcare providers' experiences counseling patients with results from consumer genomic testing

2024-8-1

<scp><i>APOL1</i></scp> polymorphisms are not influencing acute coronary syndrome risk in Czech males

2024-8-1

Developmental epileptic encephalopathy caused by homozygosity of a c.172+<scp>1G</scp>&gt;C variant in the <i>WWOX</i> gene

2024-8-1

Novel compound heterozygous variants in <scp><i>MARVELD2</i></scp> causing autosomal recessive hearing loss in two Chinese families

2024-7-30

Issue Information

2024-7-30

Multisystem disorder associated with a pathogenic variant in <scp><i>CLCN7</i></scp> in the absence of osteopetrosis

2024-7-1

Correction to “In silico validation revealed the role of <i>SCN5A</i> mutations and their genotype–phenotype correlations in Brugada syndrome”

2024-7-1

Glucose‐6‐phosphate dehydrogenase deficiency as a cause for nonimmune hydrops fetalis and severe fetal anemia: A systematic review

2024-7-1

Brainstem dominant form of X‐linked adrenoleukodystrophy with a novel <scp>ABCD1</scp> missense variant: A case report and literature review

2024-7-1

Issue Information

2024-7-1

A novel variant in the <scp><i>FLCN</i></scp> gene in a Chinese family with Birt–Hogg–Dubé syndrome

2024-7-1

Mutational spectrum and genotype–phenotype correlation in Mexican patients with infantile‐onset and late‐onset Pompe disease

2024-7-1

After an initial Hermansky–Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type <scp>1B</scp>: A case report

2024-7-1

Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder

2024-7-1

A novel variant c.902C&gt;A (p. A301D) in <i>KCNQ4</i> associated with non‐syndromic deafness 2A in a Chinese family

2024-7-1

Targeted next‐generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation

2024-7-1

A case of inherited glycosylphosphatidylinositol deficiency caused by <scp><i>PGAP3</i></scp> variant with uniparental isodisomy on chromosome 17

2024-7-1

Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix–Saguenay

2024-7-1

Synonymous variant at the terminal nucleotide in exon 3 of <i>F7</i> causes abnormal splicing: A case report

2024-7-1

Clinical approach for managing patients with unexpected <i>CDH1</i> mutations: A case report

2024-7-1

A compound heterozygote case of glutaric aciduria type <scp>II</scp> in a patient carrying a novel candidate variant in <scp><i>ETFDH</i></scp> gene: A case report and literature review on compound heterozygote cases

2024-7-1

Prenatal diagnosis and genetic study of 22q11.2 microduplication in Chinese fetuses: A series of 31 cases and literature review

2024-7-1

Homozygous <scp><i>TREM2</i></scp> c.549del; p.(<scp>Leu184Serfs</scp>*5) variant causing Nasu‐Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature

2024-6-1

Homozygous <i>TNNI3</i> frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy

2024-6-1

No evidence of Fabry disease in a patient with the new p.<scp>Met70Val GLA</scp> gene variant

2024-6-1

Prenatal diagnosis of a skeletal disorder characterized by rhizomelic shortening of limbs caused by compound heterozygous variants in the <scp><i>PKDCC</i></scp> gene: Case report and literature review

2024-6-1

Parental mosaicism rather than de novo variants in <scp><i>FOXG1</i></scp>‐related syndrome and <scp><i>TUBA1A</i></scp>‐associated Tubulinopathy: Familial case reports

2024-6-1

Retinitis pigmentosa with iris coloboma due to <i>miR‐204</i> gene variant in a Chinese family

2024-6-1

A monoallelic <scp><i>UXS1</i></scp> variant associated with short‐limbed short stature

2024-6-1

Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants

2024-6-1