Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Jahyun, Jang"'
Autor:
Ari Song, Minji Im, Min-Sun Kim, Eu Seon Noh, Chiwoo Kim, Jahyun Jang, Sae-Mi Lee, Chang-Seok Ki, Sung Yoon Cho, Dong-Kyu Jin
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 28, Iss 1, Pp 67-72 (2022)
Coffin-Lowry syndrome (CLS, OMIM # 303600) is a rare X-linked disorder caused by mutations in RPS6KA3. CLS is characterized by facial dysmorphism, digit abnormalities, developmental delays, growth retardation, and progressive skeletal changes in male
Externí odkaz:
https://doaj.org/article/2c7a73e1f338406a9c811f673589a668
Autor:
Da Hyeon Kim, Misun Yang, Heui Seung Jo, JongHo Park, JaHyun Jang, Sunghwan Shin, SeHyung Son
Publikováno v:
Children, Vol 10, Iss 1, p 76 (2022)
Branchiootorenal (BOR) syndrome is a rare autosomal dominant inherited disease with a prevalence of approximately 1 in 40,000 newborns. This disease is characterized by hearing loss, preauricular pits, branchial fistulas or cysts, and renal dysplasia
Externí odkaz:
https://doaj.org/article/a2a719111d3442169046609cc1c67e36
Autor:
Minyong Kang, Eunhae Cho, Jahyun Jang, Junnam Lee, Youngjoo Jeon, Byong Chang Jeong, Seong Il Seo, Seong Soo Jeon, Hyun Moo Lee, Han Yong Choi, Hwang Gyun Jeon
Publikováno v:
Investigative and Clinical Urology, Vol 60, Iss 4, Pp 227-234 (2019)
Purpose: To analyze the characteristics of somatic mutations and copy number alterations (CNAs) in Korean patients with advanced prostate cancer (PCa) by use of the Oncomine Comprehensive Panel (ThermoFisher Scientific) and low-coverage, whole-genome
Externí odkaz:
https://doaj.org/article/926e7734cf14406db79e65382adabaa2
Autor:
Ari Song, Minji Im, Min-Sun Kim, Eu Seon Noh, Chiwoo Kim, Jahyun Jang, Sae-Mi Lee, Chang-Seok Ki, Sung Yoon Cho, Dong-Kyu Jin
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism. 28:67-72
Coffin-Lowry syndrome (CLS, OMIM # 303600) is a rare X-linked disorder caused by mutations in RPS6KA3. CLS is characterized by facial dysmorphism, digit abnormalities, developmental delays, growth retardation, and progressive skeletal changes in male
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::597d442d0b36391ba884ec01505c4122
https://doi.org/10.6065/apem.2142134.067
https://doi.org/10.6065/apem.2142134.067
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 23, Iss 4, Pp 4-9 (2018)
X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate acc
Externí odkaz:
https://doaj.org/article/554a36e89ea740fdafa187f385780d61
Autor:
Eun-Jung, Kwon, Min-Sun, Kim, Eu-Seon, Noh, Chi-Woo, Kim, Jahyun, Jang, Jin-Ho, Choi, Sung Yoon, Cho, Dong-Kyu, Jin
Publikováno v:
Annals of clinical and laboratory science. 52(3)
Autosomal dominant hypocalcemia (ADH) is characterized by hypocalcemia and inappropriately low PTH concentrations. ADH type 2 (ADH2) is caused by a heterozygous gain-of-function mutation in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2277734343d9fc56447fb21e5cdf02d9
https://pubmed.ncbi.nlm.nih.gov/35777808
https://pubmed.ncbi.nlm.nih.gov/35777808
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism; 2018, Vol. 23 Issue 4, p229-234, 6p