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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
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Haddad Syndrome with a Germ-Line Mutation in the PHOX2B Gene in a Korean Neonate.
Chunglyul Baek, Ji Mi Jung, Yun Jung Lim, Ki Hoon Kim, Han Wook Yu, Gu Hwan Kim, Mi Lim Chung
Neonatal Med. 2015;22(3):162-167.   Published online August 31, 2015
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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
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