Long-Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia

Get full text

Kufor–Rakeb Syndrome in a Guatemalan Patient With an ATP13A2 Gene Pathogenic Variant: A Case Report

Get full text

Identification of a Mosaic BMPR1A Pathogenic Variant in Juvenile Polyposis Syndrome: A Case Study and Its Impact on Cancer Screening

Get full text

Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development

Get full text

Novel SIAH1 Frameshift Variant in a Chilean Patient With Buratti–Harel Syndrome

Get full text

RAPSN-Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position

Get full text

Bone Marrow Failure Associated With Short Telomeres and Digenic Variants of Uncertain Significance in Telomere Biology Genes

Get full text

A Novel Variant in the BICRA Gene, Expanding the Phenotype: A Case Report

Get full text

Emanuel Syndrome: A Case Report With Isolated Nuchal Translucency Thickening

Get full text

Mitochondrial Dysfunction in Sickle Cell Trait Carriers With Exertional Collapse

Get full text

An Extremely Preterm Infant With PIK3CA-Related Overgrowth Spectrum (PROS): Alpelisib Treatment and Outcome

Get full text

A Novel Case of NOTCH1 Variant and Nonimmune Hydrops Fetalis: A Case Report

Get full text

Genome survey and chromosome number determination of Polygala fallax (Polygalaceae), an endemic medicinal plant from southern China

Get full text

Additional data of cryptic species of the blind mole rat (Nannospalax, Rodentia) (2n = 52, NF = 84) from the Eastern Anatolia Region of Türkiye

Get full text

Cytogenetic analysis of some species of Cyphomyrmex Mayr, 1862 and Apterostigma Mayr, 1865 (Formicidae, Myrmicinae) from the Guiana Shield

Get full text

Chromosomes of Aganaspis daci (Weld, 1951) and a review of known karyotypes of the family Figitidae (Hymenoptera)

Get full text

The forbidden doubling: exploring rare spermatocyte polyploidy in mammals

Get full text

Seven new karyotypes for subfamily Cercosaurinae (Squamata, Gymnophthalmidae) with a synthesis of chromosomal data

Get full text

Phylogenetic conservation and diversification of 18S rDNA loci in leaf-cutting ants (Hymenoptera, Formicidae): insights from molecular validation and chromosomal mapping using FISH

Get full text

Chironomus sp. J – an elusive species from the Chironomus plumosus (Linnaeus, 1758) sibling-species group (Diptera, Chironomidae)

Get full text