Search Results - "Park, Jung Young" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE

by Seo, Go Hun, Kim, Taeho, Choi, In Hee, Park, Jung‐young, Lee, Jungsul, Kim, Sehwan, Won, Dhong‐gun, Oh, Arum, Lee, Yena, Choi, Jeongmin, Lee, Hajeong, Kang, Hee Gyung, Cho, Hee Yeon, Cho, Min Hyun, Kim, Yoon Jeon, Yoon, Young Hee, Eun, Baik‐Lin, Desnick, Robert J., Keum, Changwon, Lee, Beom Hee
Published in Clinical genetics (01.12.2020)

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Journal Article

PALB2: The hub of a network of tumor suppressors involved in DNA damage responses

PALB2: The hub of a network of tumor suppressors involved in DNA damage responses

by Park, Jung-Young, Zhang, Fan, Andreassen, Paul R.
Published in Biochimica et biophysica acta (01.08.2014)

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Journal Article

The p.Ser64Leu and p.Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage response

The p.Ser64Leu and p.Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage response

by Zhang, Yue, Park, Jung‐Young, Zhang, Fan, Olson, Sara H., Orlow, Irene, Li, Yirong, Kurtz, Robert C., Ladanyi, Marc, Chen, Jie, Toland, Amanda E., Zhang, Liying, Andreassen, Paul R.
Published in Human mutation (01.02.2021)

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Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort

Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort

by Lee, Beom H., Kim, Joo H., Lee, Sun Y., Jin, Hye Y., Kim, Kwi-Joo, Lee, Jin-Joo, Park, Jung-Young, Kim, Gu-Hwan, Choi, Jin-Ho, Kim, Kyung M., Yoo, Han-Wook
Published in Liver international (01.07.2011)

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Journal Article

Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns

Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns

by Lee, Beom Hee, Heo, Sun Hee, Kim, Gu-Hwan, Park, Jung-Young, Kim, Woo-Shik, Kang, Duk-Hee, Choe, Kyung Hoon, Kim, Won-Ho, Yang, Song Hyun, Yoo, Han-Wook
Published in Journal of human genetics (01.08.2010)

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Journal Article

Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease

Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease

by Park, Sangwook, Park, Jung-Young, Kim, Gu-Hwan, Choi, Jin-Ho, Kim, Kyung-Mo, Kim, Jong-Bae, Yoo, Han-Wook
Published in Human mutation (01.11.2007)

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Journal Article

Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease

Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease

by Park, Jung Young, Kim, Gu Hwan, Kim, Sung Su, Ko, Jung Min, Lee, Jin Joo, Yoo, Han Wook
Published in Experimental & molecular medicine (31.01.2009)

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Journal Article

Identification of a novel human Rad51 variant that promotes DNA strand exchange

Identification of a novel human Rad51 variant that promotes DNA strand exchange

by Park, Jung-Young, Yoo, Han-Wook, Kim, Bok-Ryang, Park, Raekil, Choi, Sang-Yun, Kim, Youngho
Published in Nucleic acids research (01.06.2008)

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Journal Article

Complementation of hypersensitivity to DNA interstrand crosslinking agents demonstrates that XRCC2 is a Fanconi anaemia gene

Complementation of hypersensitivity to DNA interstrand crosslinking agents demonstrates that XRCC2 is a Fanconi anaemia gene

by Park, Jung-Young, Virts, Elizabeth L, Jankowska, Anna, Wiek, Constanze, Othman, Mohamed, Chakraborty, Sujata C, Vance, Gail H, Alkuraya, Fowzan S, Hanenberg, Helmut, Andreassen, Paul R
Published in Journal of medical genetics (01.10.2016)

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Journal Article

Prevention of Hyperuricemia by Clerodendrum trichotomum Leaf Extract in Potassium Oxonate-Induced Mice

Prevention of Hyperuricemia by Clerodendrum trichotomum Leaf Extract in Potassium Oxonate-Induced Mice

by Jang, Mi Gyeong, Song, Hana, Kim, Ji Hye, Oh, Jung Min, Park, Jung Young, Ko, Hee Chul, Hur, Sung-Pyo, Kim, Se-Jae
Published in Balsaeng'gwa saengsig (2020)

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Journal Article

MDC1 and RNF8 function in a pathway that directs BRCA1-dependent localization of PALB2 required for homologous recombination

MDC1 and RNF8 function in a pathway that directs BRCA1-dependent localization of PALB2 required for homologous recombination

by Zhang, Fan, Bick, Gregory, Park, Jung-Young, Andreassen, Paul R
Published in Journal of cell science (15.12.2012)

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Journal Article

Expression and Purification of Enzymatically Active Forms of the Human Lysyl Oxidase-like Protein 4

Expression and Purification of Enzymatically Active Forms of the Human Lysyl Oxidase-like Protein 4

by Kim, Moon Suk, Kim, Sung-Su, Jung, Sang Taek, Park, Jung-Young, Yoo, Han-Wook, Ko, Jesang, Csiszar, Katalin, Choi, Sang-Yun, Kim, Youngho
Published in The Journal of biological chemistry (26.12.2003)

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Journal Article

Elasticity floor material composition of the excellent permeability using waste resin generating in spandex fiber manufacturing process

Elasticity floor material composition of the excellent permeability using waste resin generating in spandex fiber manufacturing process

by PARK, JUNG YOUNG
Year of Publication 14.11.2023

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Patent

Proteomic analysis of sera of asymptomatic, early-stage patients with Wilson's disease

Proteomic analysis of sera of asymptomatic, early-stage patients with Wilson's disease

by Park, Jung-Young, Mun, Joo Hee, Lee, Beom Hee, Heo, Sun Hee, Kim, Gu-Hwan, Yoo, Han-Wook
Published in Proteomics. Clinical applications (01.10.2009)

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Journal Article

Clinical and Functional Characteristics of a Novel Heterozygous Mutation of the IGF1R Gene and IGF1R Haploinsufficiency due to Terminal 15q26.2->qter Deletion in Patients with Intrauterine Growth Retardation and Postnatal Catch-Up Growth Failure

Clinical and Functional Characteristics of a Novel Heterozygous Mutation of the IGF1R Gene and IGF1R Haploinsufficiency due to Terminal 15q26.2->qter Deletion in Patients with Intrauterine Growth Retardation and Postnatal Catch-Up Growth Failure

by Choi, Jin-Ho, Kang, Minji, Kim, Gu-Hwan, Hong, Maria, Jin, Hye Young, Lee, Beom-Hee, Park, Jung-Young, Lee, Se-Min, Seo, Eul-Ju, Yoo, Han-Wook
Published in The journal of clinical endocrinology and metabolism (01.01.2011)

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Journal Article

Topology-based system status and bottleneck monitoring method and system in message-oriented middleware

Topology-based system status and bottleneck monitoring method and system in message-oriented middleware

by PARK JUNG YOUNG, LEE JAE MIN, KIM JEONG YEON
Year of Publication 28.06.2024

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Patent

Method and system for transmitting a message capable of tracking the history of a failed message and retransmitting it afterward in message-oriented middleware

Method and system for transmitting a message capable of tracking the history of a failed message and retransmitting it afterward in message-oriented middleware

by PARK JUNG YOUNG, LEE JAE MIN, KIM JEONG YEON
Year of Publication 28.06.2024

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Patent

TOPOLOGY-BASED SYSTEM STATE AND BOTTLENECK SECTION MONITORING METHOD AND SYSTEM IN MESSAGE-ORIENTED MIDDLEWARE

TOPOLOGY-BASED SYSTEM STATE AND BOTTLENECK SECTION MONITORING METHOD AND SYSTEM IN MESSAGE-ORIENTED MIDDLEWARE

by KIM, Jeong Yeon, LEE, Jae Min, PARK, Jung Young
Year of Publication 27.06.2024

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Patent

MESSAGE TRANSMISSION METHOD AND SYSTEM ENABLING HISTORY TRACKING AND POST-RETRANSMISSION OF MESSAGES THAT FAILED TO BE TRANSMITTED IN MESSAGE-ORIENTED MIDDLEWARE

MESSAGE TRANSMISSION METHOD AND SYSTEM ENABLING HISTORY TRACKING AND POST-RETRANSMISSION OF MESSAGES THAT FAILED TO BE TRANSMITTED IN MESSAGE-ORIENTED MIDDLEWARE

by KIM, Jeong Yeon, LEE, Jae Min, PARK, Jung Young
Year of Publication 27.06.2024

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Patent

Differential expression of the LOX family genes in human colorectal adenocarcinomas

Differential expression of the LOX family genes in human colorectal adenocarcinomas

by KIM, Youngho, ROH, Seonae, PARK, Jung-Young, KIM, Yangsik, DONG HYUNG CHO, JIN CHEON KIM
Published in Oncology reports (01.10.2009)

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Journal Article

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