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Novel Mutation of
SLC26A3
Gene Observed in Congenital Chloride Diarrhea
Ji Hye Cheon, Na Li Yu, Na Mi Lee
Neonatal Med.
2023;30(3):75-78. Published online August 31, 2023
DOI:
https://doi.org/10.5385/nm.2023.30.3.75
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A Case of Epidermolysis Bullosa Simplex (Dowling-Meara 1 Type) in Newborn
Gahyun Hong, Minsun Choi
Neonatal Med.
2022;29(4):130-134. Published online November 30, 2022
DOI:
https://doi.org/10.5385/nm.2022.29.4.130
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Autosomal Recessive Malignant Infantile Osteopetrosis Associated with a
TCIRG1
Mutation: A Case Report of a Neonate Presenting with Hypocalcemia in South Korea
Yun Kyo Oh, Koung Eun Choi, Youn-Jeong Shin, Eun Ryoung Kim, Ji Yeon Kim, Min Sun Kim, Sung Yoon Cho, Dong Kyu Jin
Neonatal Med.
2021;28(3):133-138. Published online August 30, 2021
DOI:
https://doi.org/10.5385/nm.2021.28.3.133
Full text
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ePub
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KCNQ2
Encephalopathy Showing a Distinct Ictal Amplitude-Integrated Electroencephalographic Pattern
Naeun Kwak, Yun Jeong Lee, Dongsub Kim, Su-Kyeong Hwang, Soonhak Kwon, Eun Joo Lee
Neonatal Med.
2020;27(4):202-206. Published online November 30, 2020
DOI:
https://doi.org/10.5385/nm.2020.27.4.202
Cited By 1
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Newly Detected PKHD1 Gene Mutation in a Newborn with Fatal Autosomal Recessive Polycystic Kidney Disease.
Ye Jee Byun, Hyun Jeong Do, Seong Hee Oh, Chong Jai Kim, Beom Hee Lee, Gu Hwan Kim, Byoung Sop Lee, Ki Soo Kim, Ai Rhan Kim
Neonatal Med.
2015;22(4):217-222. Published online November 30, 2015
DOI:
https://doi.org/10.5385/nm.2015.22.4.217
Cited By 1
PDF
A Novel MUT Gene Mutation Detected in a Female Infant with Methylmalonic Acidemia.
Woo Sun Song, Byung Jin Song, Hyung Doo Park, Won Duck Kim
Neonatal Med.
2015;22(1):51-54. Published online February 28, 2015
DOI:
https://doi.org/10.5385/nm.2015.22.1.51
Cited By 1
PDF
Noonan Syndrome Confirmed to KRAS Gene Mutation: A Case of KRAS Gene Mutation.
Sung Woo Kim, So Eun Park, In Hyuk Jeong, Jeong Won Yoon, Cho Ae Lee, Ji hyun Jeon
Neonatal Med.
2011;18(2):374-378. Published online November 25, 2011
DOI:
https://doi.org/10.5385/jksn.2011.18.2.374
Cited By 1
PDF
Novel Compound Heterozygote Mutations of the SLC25A13 Gene in an Infant with Neonatal-onset Type II Citrullinemia Detected by Newborn Mass Screening.
Ho Seop Lim, Ho Kim, Sung Shin Kim, Gu Hwan Kim, Han Wook Yoo, Young Lim Shin
Neonatal Med.
2011;18(2):370-373. Published online November 25, 2011
DOI:
https://doi.org/10.5385/jksn.2011.18.2.370
Cited By 1
PDF
A Novel Argininosuccinate Synthetase Gene Mutation in a Korean Family with Type I Citrullinemia.
Byoung Whan Ahn, Hyun Jeung Kim, Hyung Doo Park, Won Duck Kim
Neonatal Med.
2010;17(2):250-253. Published online November 15, 2010
DOI:
https://doi.org/10.5385/jksn.2010.17.2.250
Cited By 4
PDF
UDP-glucuronosyltransferase 1A1 Gene Polymorphism in Severe Neonatal Hyperbilirubinemia.
Je Deok Jeon, Heui Seung Jo, Seong Gyu Lee, Sung Hwan Byun, Joong Suk Yeo, Yeon Hwa Ahn, Soo Hee Chang, Se Young Kim, Jong Woon Choi
Neonatal Med.
2007;14(1):46-52. Published online May 1, 2007
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ABOUT
Aims and scope
About the journal
About the society
Editorial board
Managing team
Best practice
Open access
Advertising policy
Contact us
ARTICLE CATEGORY
Review
Original Article
Case report
Others
Browse all articles >
BROWSE ARTICLES
Current issue
All issues
Ahead-of print
Most view
Most download
Most cited
Funded articles
Neonatal Med Search
Author index
AUTHOR INFORMATION
Instructions for authors
Research and publication ethics
Author’s checklist
E-submission
Subscription information
Copyright transfer agreement
Article Processing Charge