MCT8 Deficiency in Two Brothers With a Novel Deletion Mutation in SLC16A2

Subjects: “…Biological Sciences…”
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A Complex Chromosome Rearrangement Disrupting SYT1 Supports Haploinsufficiency as a Cause of Baker–Gordon Syndrome

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Diaphragmatic Hernia in a Newborn With COL1A1-Associated Classical Ehlers–Danlos Syndrome

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

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

Subjects: “…Biological Sciences…”
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Identification of a Mosaic BMPR1A Pathogenic Variant in Juvenile Polyposis Syndrome: A Case Study and Its Impact on Cancer Screening

Subjects: “…Biological Sciences…”
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Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development

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

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

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

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

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Emanuel Syndrome: A Case Report With Isolated Nuchal Translucency Thickening

Subjects: “…Biological Sciences…”
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Mitochondrial Dysfunction in Sickle Cell Trait Carriers With Exertional Collapse

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

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

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

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

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

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

Subjects: “…Biological Sciences…”
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The forbidden doubling: exploring rare spermatocyte polyploidy in mammals

Subjects: “…Biological Sciences…”
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