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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
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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
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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
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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
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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
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
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
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
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
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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