[작성자:] cms3billion

Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene

6월 28, 2024

—

제공

cms3billion

안 논문 (Publication)
A Novel Missense Mutation (L44V) of PAX2 Associated with Adult-Onset End-Stage Renal Disease and No Syndromic Features

6월 28, 2024

—

제공

cms3billion

안 논문 (Publication)
Clinical and molecular spectra of BRAF-associated RASopathy

6월 28, 2024

—

제공

cms3billion

안 논문 (Publication)
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE

6월 28, 2024

—

제공

cms3billion

안 논문 (Publication)
The first Korean cases of combined oxidative phosphorylation deficiency 35 with two novel TRIT1 gene mutations in two siblings confirmed by clinical and molecular investigation

6월 28, 2024

—

제공

cms3billion

안 논문 (Publication)
Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome

6월 28, 2024

—

제공

cms3billion

안 논문 (Publication)
Rapidly progressing early puberty in a boy with bilateral basal ganglia germinoma and TREX1 variant

6월 28, 2024

—

제공

cms3billion

안 논문 (Publication)
Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndrome

6월 28, 2024

—

제공

cms3billion

안 논문 (Publication)
Identification of a heterozygous ACAN mutation in a 15-year-old boy with short stature who presented with advanced bone age: a case report and review of the literature

6월 26, 2024

—

제공

cms3billion

안 논문 (Publication)
First Korean Case of Coffin-Siris Syndrome with a Novel Frameshift ARID1B Mutation

6월 26, 2024

—

제공

cms3billion

안 논문 (Publication)