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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; Full text PubReader ePub Crossref - TDM PDF


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; Full text PubReader ePub Crossref - TDM PDF


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 PubReader ePub Crossref - TDM PDF


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; Full text PubReader ePub Crossref - TDM PDF


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; PDF

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