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Respiratory Research|March 21, 2025
Two novel genetic variants in the WFDC2 gene from patients with bronchiectasisJeong-Min Kim, Soojin Hwang, Hye-Won Cho, et al.Clinical Endocrinology|September 20, 2015
Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidismJa Hye Kim, Young-Lim Shin, Seung Yang, et al.Hormone Research in Paediatrics|July 11, 2012
Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 gene mutationJin-Ho Choi, Beom Hee Lee, Chang-Woo Jung, et al.Journal of Human Genetics|October 11, 2020
Clinical and molecular spectra of BRAF-associated RASopathyYena Lee, Yunha Choi, Go Hun Seo, et al.Pediatric Research|June 18, 2009
Atypical hemolytic uremic syndrome associated with complement factor H autoantibodies and CFHR1/CFHR3 deficiencyBeom Hee Lee, Soo Heon Kwak, Jae Il Shin, et al.Medicine|December 29, 2020
Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotoniaHyunji Ahn, Go Hun Seo, Arum Oh, et al.Journal of Korean Medical Science|April 2, 2015
A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher diseaseJin-Ho Choi, Beom Hee Lee, Jung Min Ko, et al.Molecular Medicine (Cambridge, Mass.)|March 3, 2016
Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular StudiesYoo-Mi Kim, Ja Hye Kim, Jin Choi, et al.The Korean Journal of Hepatology|February 8, 2012
Osler-Weber-Rendu disease presenting with hepatocellular carcinoma: radiologic and genetic findingsJoo Ho Lee, Yung Sang Lee, Pyo Nyun Kim, et al.Molecular Genetics and Metabolism|December 19, 2012
High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutationsBeom Hee Lee, Yoo-Mi Kim, Sun Hee Heo, et al.Pageof 20