Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Jung, Min"'
Autor:
Jin-Ho Choi, Yunha Choi, In Hee Choi, Gu-Hwan Kim, Chong Kun Cheon, Han Wook Yoo, Beom Hee Lee, Yena Lee, Changwon Keum, Jung Min Ko, Go Hun Seo, Jihyun Jeon
Publikováno v:
Journal of human genetics. 66(4)
Noonan syndrome (NS) and cardio-facio-cutaneous (CFC) syndrome are the most common subtypes of RASopathy. As an effector of Ras, BRAF is one of the molecules responsible for RASopathy. We investigated the phenotypic and genotypic features of 26 patie
Akademický článek
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Autor:
Jung-Min Koh1,2, Bermseok Oh3, Jong Yong Lee3, Jong-Keuk Lee3, Kimm, Kuchan3, Ghi Su Kim1,2, Byung Lae Park4, Hyun Sub Cheong4, Hyoung Doo Shin4, Jung Min Hong1, Tae-Ho Kim1, Eui Kyun Park1 epark@knu.ac.kr, Shin-Yoon Kim1,5 syukim@knu.ac.kr
Publikováno v:
Journal of Human Genetics. Feb2006, Vol. 51 Issue 2, p112-117. 6p.
Autor:
Choong Ho Shin, Jieun Seo, Jung Min Ko, Hae Il Cheong, Soyoon Jung, Murim Choi, Ok Hwa Kim, Tae Joon Cho
Publikováno v:
Journal of Human Genetics. 61:561-564
SOFT syndrome (MIM614813) is an extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by biallelic mutations in the POC1A gene. Only 19 patients with mutation-confirm
Publikováno v:
Journal of Human Genetics. 61:235-239
CHARGE syndrome (OMIM 214800) is a rare autosomal-dominant congenital malformation syndrome that results from haploinsufficiency of the chromodomain helicase DNA-binding protein 7 (CHD7). We performed a phenotypic characterization and genetic analysi
Publikováno v:
Journal of human genetics. 63(8)
Argininosuccinic aciduria (ASA), which is considered to be the second most common urea cycle disorder (UCD), is caused by an argininosuccinate lyase deficiency and is biochemically characterized by elevation of argininosuccinic acid and arginine defi
Autor:
Lee, Yena, Choi, Yunha, Seo, Go Hun, Kim, Gu-Hwan, Choi, In Hee, Keum, Changwon, Ko, Jung Min, Cheon, Chong Kun, Jeon, Jihyun, Choi, Jin-Ho, Yoo, Han-Wook, Lee, Beom Hee
Publikováno v:
Journal of Human Genetics; April 2021, Vol. 66 Issue: 4 p389-399, 11p
Publikováno v:
Journal of Human Genetics. Nov2008, Vol. 53 Issue 11/12, p999-1006. 8p. 2 Charts.
Autor:
Jieun Seo, Jung Min Ko, Murim Choi, Yong Beom Shin, I. H. Choi, Nayoung K.D. Kim, Yongjin Yoo, Je Sang Lee
Publikováno v:
Journal of Human Genetics. 60:213-215
Multiple pterygium syndrome (MPS) is an autosomal recessively inherited condition that becomes evident before birth, with pterygium at multiple joints and akinesia. There are two forms of this syndrome that are differentiated by clinical severity: th
Akademický článek
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