Search the collection

45 results for Cheon,+Chong+Kun

Sort by:

Sort by

Limit results to:

20 per page

45 results for Cheon,+Chong+Kun

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
Considerations for evaluating the effectiveness and longterm outcome of enzyme replacement therapy in Pompe disease
Author / Creator:Cheon, Chong Kun
Journal title:Clinical and experimental pediatrics, 2020, Vol.63 (1), p.14-15
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
Kabuki syndrome: clinical and molecular characteristics
Author / Creator:Chong-Kun Cheon ; Ko, Jung Min
Publisher:Sŏul: Clinical and Experimental Pediatics / Korean Pediatric Society
Journal title:Clinical and Experimental Pediatrics, 2015, 58(9), , pp.317-324
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency
Author / Creator:Choi, Jin-Ho ; Lee, Beom Hee ; Kim, Ja Hye ; Kim, Gu-Hwan ; Kim, Yoo-Mi ; Cho, Jahyang ; Cheon, Chong-Kun ; Ko, Jung Min ; Lee, Jung Hyun ; Yoo, Han-Wook
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2015-09, Vol.60 (9), p.501-507
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome
Author / Creator:Kyo Jin Jo ; Kim, Yoo Mi ; Ju Young Yoon ; Lee, Yeoun Joo ; Han, Young Mi ; Han-Wook Yoo ; Kim, Hyang-Sook ; Cheon, Chong Kun
Publisher:Sŏul: Clinical and Experimental Pediatics / Korean Pediatric Society
Journal title:Clinical and Experimental Pediatrics, 2019, 62(7), , pp.274-280
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease
Author / Creator:Ko, Younhee ; Lee, CheolHo ; Moon, Myeong Hee ; Hong, Geu-Ru ; Cheon, Chong-Kun ; Lee, Jin-Sung
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2016-02, Vol.61 (2), p.143-149
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
Practical approach to steroid 5alpha-reductase type 2 deficiency
Author / Creator:Cheon, Chong Kun
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:European journal of pediatrics, 2011-01, Vol.170 (1), p.1-8
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature
Author / Creator:Kamil, Gilyazetdinov ; Yoon, Ju Young ; Yoo, Sukdong ; Cheon, Chong Kun
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-07, Vol.16 (1), p.1-19, Article 297
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Oral trehalose improves histological and behavior symptoms of mucopolysaccharidosis type II in iduronate 2-sulfatase deficient mice
Author / Creator:Lee, Hyesook ; Han, Jung-Hwa ; Jeong, Roo Gam ; Kang, Yun Jeong ; Choi, Byung Hyun ; Kim, Seo Rin ; Cheon, Chong Kun ; Hur, Jin ; Lee, Soo Yong
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2025-02, Vol.15 (1), p.4882-12
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
Considerations for evaluating the effectiveness and long-term outcome of enzyme replacement therapy in Pompe disease
Author / Creator:Cheon, Chong Kun
Publisher:Korea (South): Clinical and Experimental Pediatics / Korean Pediatric Society
Journal title:Clinical and Experimental Pediatrics, 2020, 63(1), , pp.14-15
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
Understanding of type 1 diabetes mellitus: what we know and where we go
Author / Creator:Cheon, Chong Kun
Publisher:Sŏul: Clinical and Experimental Pediatics / Korean Pediatric Society
Journal title:Clinical and Experimental Pediatrics, 2018, 61(10), , pp.307-314
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay
Author / Creator:Lee, Kyu-Sun ; Choi, Miri ; Kwon, Dae-Woo ; Kim, Doyoun ; Choi, Jong-Moon ; Kim, Ae-Kyeong ; Ham, Youngwook ; Han, Sang-Bae ; Cho, Sungchan ; Cheon, Chong Kun
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2020-06, Vol.10 (1), p.9849, Article 9849
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene
Author / Creator:Cheon, Chong Kun ; Lim, So-Hee ; Kim, Yoo-Mi ; Kim, Doyoun ; Lee, Na-Yoon ; Yoon, Tae-Sung ; Kim, Nam-Soon ; Kim, Eunjoon ; Lee, Jae-Ran
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2017-10, Vol.7 (1), p.12527-11, Article 12527
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
Comparison of growth hormone therapy response according to the presence of growth hormone deficiency in children born small for gestational age with short stature in Korea: a retrospective cohort stud...
Author / Creator:Jo, Ha Young ; Jang, Hyun Ji ; Cheon, Chong Kun ; Yoon, Ju Young ; Yoo, Sukdong ; Lee, Jung Hyun ; Lee, Jeong Eun ; Kim, Ye Jin ; Kim, Sejin ; Kim, Hyun-Ji ; Choi, Im Jeong ; Kwak, Min Jung
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2025-02, Vol.25 (1), p.89-8, Article 89
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay
Author / Creator:Seo, Go Hun ; Lee, Hane ; Lee, Jungsul ; Han, Heonjong ; Cho, You Kyung ; Kim, Minji ; Choi, Yunha ; Choi, Jeongmin ; Choi, In Hee ; Rhie, Seonkyeong ; Chae, Kyu Young ; Kim, Yoo-Mi ; Cheon, Chong Kun ; Kim, Su Jin ; Lee, Jieun ; Kang, Eungu ; Byeon, Jung Hye ; Yu, Hee Joon ; Shin, Young-Lim ; Oh, Arum ; Kim, Woo Jin ; Yum, Mi-Sun ; Lee, Beom Hee ; Eun, Baik-Lin
Publisher:England: BioMed Central
Journal title:Molecular medicine (Cambridge, Mass.), 2022-03, Vol.28 (1), p.38-15, Article 38
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
A heterozygous mutation in UBE2H in a patient with developmental delay leads to an aberrant brain development in zebrafish
Author / Creator:Shin, Unbeom ; Choi, Yeonsong ; Ko, Hwa Soo ; Myung, Kyungjae ; Lee, Semin ; Cheon, Chong Kun ; Lee, Yoonsung
Publisher:England: BioMed Central
Journal title:Human genomics, 2023-05, Vol.17 (1), p.44-15, Article 44
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
Low prevalence of classical galactosemia in Korean population
Author / Creator:Lee, Beom Hee ; Cheon, Chong Kun ; Kim, Jae-Min ; Kang, Minji ; Kim, Joo Hyun ; Yang, Song Hyun ; Kim, Gu-Hwan ; Choi, Jin-ho ; Yoo, Han-Wook
Publisher:London: Nature Publishing Group UK
Journal title:Journal of human genetics, 2011-01, Vol.56 (1), p.94-96
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
Clinical and molecular spectra of BRAF-associated RASopathy
Author / Creator: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
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2021-04, Vol.66 (4), p.389-399
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects
Author / Creator:Kim, Yoo-Mi ; Choi, Jin-Ho ; Kim, Gu-Hwan ; Sohn, Young Bae ; Ko, Jung Min ; Lee, Beom Hee ; Cheon, Chong Kun ; Lim, Han Hyuk ; Heo, Sun-Hee ; Yoo, Han-Wook
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2020-11, Vol.15 (1), p.318-10, Article 318
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
Haploinsufficiency A20 misdiagnosed as PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis) syndrome with Kikuchi disease
Author / Creator:Jo, Kyo Jin ; Park, Su Eun ; Cheon, Chong Kun ; Oh, Seung Hwan ; Kim, Seong Heon
Publisher:Korea (South): Clinical and Experimental Pediatics / Korean Pediatric Society
Journal title:Clinical and experimental pediatrics, 2023-02, Vol.66 (2), p.82-84
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 20
ArticlesPeer ReviewedFull Text
Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome
Author / Creator:Cheon, Chong Kun ; Sohn, Young Bae ; Ko, Jung Min ; Lee, Yeoun Joo ; Song, Ji Sun ; Moon, Jea Woo ; Yang, Bo Kyoung ; Ha, Il Soo ; Bae, Eun Jung ; Jin, Hyun-Seok ; Jeong, Seon-Yong
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2014-06, Vol.59 (6), p.321-325
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 45 results

Export record to excel

Export this record

Export record to excel

Considerations for evaluating the effectiveness and longterm outcome of enzyme replacement therapy in Pompe disease

Export this record

Export record to excel

Kabuki syndrome: clinical and molecular characteristics

Export this record

Export record to excel

Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency

Export this record

Export record to excel

Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome

Export this record

Export record to excel

Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease

Export this record

Export record to excel

Practical approach to steroid 5alpha-reductase type 2 deficiency

Export this record

Export record to excel

Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature

Export this record

Export record to excel

Oral trehalose improves histological and behavior symptoms of mucopolysaccharidosis type II in iduronate 2-sulfatase deficient mice

Export this record

Export record to excel

Considerations for evaluating the effectiveness and long-term outcome of enzyme replacement therapy in Pompe disease

Export this record

Export record to excel

Understanding of type 1 diabetes mellitus: what we know and where we go

Export this record

Export record to excel

A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay

Export this record

Export record to excel

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene

Export this record

Export record to excel

Comparison of growth hormone therapy response according to the presence of growth hormone deficiency in children born small for gestational age with short stature in Korea: a retrospective cohort stud...

Export this record

Export record to excel

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay

Export this record

Export record to excel

A heterozygous mutation in UBE2H in a patient with developmental delay leads to an aberrant brain development in zebrafish

Export this record

Export record to excel

Low prevalence of classical galactosemia in Korean population

Export this record

Export record to excel

Clinical and molecular spectra of BRAF-associated RASopathy

Export this record

Export record to excel

The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects

Export this record

Export record to excel

Haploinsufficiency A20 misdiagnosed as PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis) syndrome with Kikuchi disease

Export this record

Export record to excel

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome

Refine your search