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Found 191 Results

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BMC Endocr Disord

Familial chylomicronemia syndrome: case reports of siblings with deletions of the GPIHBP1 gene

April 15, 2024

Am J Med Genet B Neuropsychiatr Genet

KCNJ3 is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia identified using whole genome sequencing

April 10, 2024

Diagnostics (Basel)

Whole-Exome Sequencing and Analysis of the T Cell Receptor β and γ Repertoires in Rheumatoid Arthritis

March 1, 2024

Ann Pediatr Endocrinol Metab

Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience

February 29, 2024

Respirology

Next-generation sequencing using tissue specimen collected with a 1.1 mm-diameter cryoprobe in patients with lung cancer

February 20, 2024

J Neuroinflammation

Progranulin haploinsufficiency mediates cytoplasmic TDP-43 aggregation with lysosomal abnormalities in human microglia

February 13, 2024

Medicina (Kaunas)

16S rRNA Next-Generation Sequencing May Not Be Useful for Examining Suspected Cases of Spontaneous Bacterial Peritonitis

February 8, 2024

Ann Pediatr Endocrinol Metab

Resistance to thyroid hormone and nonfunctioning pituitary microadenoma in a 13-year-old boy with THRB mutation

January 28, 2024

Neurol Genet

Novel In-Frame Deletion CNOT3 Variant in a Family With Intellectual Developmental Disorder With Speech Delay and Dysmorphic Facies

January 3, 2024

Blood Res

Clinically relevant core genes for hematologic malignancies in clinical NGS panel testing

December 31, 2023

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