[작성자:] cms3billion

The First Korean Family With Boucher-Neuhäuser Syndrome Carrying a Novel Mutation in PNPLA6

7월 2, 2024

—

제공

cms3billion

안 논문 (Publication)
The first case of novel variants of FSHR mutation causing primary amenorrhea in two siblings in Korea

7월 2, 2024

—

제공

cms3billion

안 논문 (Publication)
Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria and severe intellectual disability in a Pakhtun family

7월 2, 2024

—

제공

cms3billion

안 논문 (Publication)
A sibling study of infantile cerebellar-retinal degeneration with novel compound heterozygous variants in ACO2

7월 2, 2024

—

제공

cms3billion

안 논문 (Publication)
A novel likely pathogenic PLCG2 variant in a patient with a recurrent skin blistering disease and B-cell lymphopenia

7월 2, 2024

—

제공

cms3billion

안 논문 (Publication)
A novel PS4 criterion approach based on symptoms of rare diseases and in-house frequency data in a Bayesian framework

7월 2, 2024

—

제공

cms3billion

안 논문 (Publication)
Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes

7월 2, 2024

—

제공

cms3billion

안 논문 (Publication)
Inherited CARD9 Deficiency Due to a Founder Effect in East Asia

7월 2, 2024

—

제공

cms3billion

안 논문 (Publication)
How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype

7월 2, 2024

—

제공

cms3billion

안 논문 (Publication)
Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing

7월 2, 2024

—

제공

cms3billion

안 논문 (Publication)