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1 |
Pseudohypoaldosteronism Type 1
Cheong, Hae Il;
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Korean Society of Medical Genetics and Genomics
, v.10, no.2, pp.81-87,
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2 |
Alexander Disease
Kang, Ji Hae;Hong, Seung Jee;Kim, Doo-Kwun;
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Korean Society of Medical Genetics and Genomics
, v.10, no.2, pp.88-93,
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3 |
Female Carriers of Duchenne Muscular Dystrophy
Cho, Yu Na;Choi, Young-Chul;
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Korean Society of Medical Genetics and Genomics
, v.10, no.2, pp.94-98,
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4 |
Prenatal Diagnosis of Chromosome 22q11.2 Deletions: Experiences in a Single Institution
Chae, Yong Hwa;Kwak, Dong Wook;Kim, Moon Young;Park, So Yeon;Lee, Bom Yi;Lee, Yeon Woo;Lee, Young Ho;Song, Mi Jin;Ryu, Hyun Mee;
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Korean Society of Medical Genetics and Genomics
, v.10, no.2, pp.99-103,
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5 |
Paracentric Inversions Found in Prenatal Diagnosis
Lee, Shin Yeong;Lee, Bom Yi;Park, Ju Yeon;Choi, Eun Young;Lee, Yeon Woo;Oh, Ah Rum;Ryu, Hyun Mee;Park, So Yeon;
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Korean Society of Medical Genetics and Genomics
, v.10, no.2, pp.104-108,
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6 |
A Novel Insertion in Exon 23 of the TCOF1 Gene in a Newborn Infant with Treacher Collins Syndrome
Yang, Ji Hyeon;Cha, Hyo Hyun;Yoon, Hye Sun;
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Korean Society of Medical Genetics and Genomics
, v.10, no.2, pp.109-112,
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7 |
A Neonatal Form of Alexander Disease Presented with Intractable Seizures and Obstructive Hydrocephalus
Yoo, Il Han;Hong, Won Gi;Kim, Hunmin;Lim, Byung Chan;Hwang, Hee;Chae, Jong-Hee;Kim, Ki Joong;Hwang, Yong Seung;
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Korean Society of Medical Genetics and Genomics
, v.10, no.2, pp.113-116,
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8 |
A Rare Case of Double Trisomy Mosaicism: 47,XXX/47,XX,+8
Lee, Jae Hee;Kim, Heung Sik;Ha, Jung Sook;
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Korean Society of Medical Genetics and Genomics
, v.10, no.2, pp.117-119,
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9 |
Height and Bone Phenotype of 22q11.2 Deletion Syndrome: Lessons from the Gene Analysis of Three Cases
Kim, Bu Kyung;Sohn, Young Bae;Park, Sang-Jin;Yim, Shin-Young;Chung, Yoon-Sok;
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Korean Society of Medical Genetics and Genomics
, v.10, no.2, pp.120-123,
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10 |
One Case of BRCA2 Germline Mutation Ovarian Cancer Mother and Carrier Daughter found by Genetic Counseling
Lee, Eun Jung;Jeong, Hee Jeong;Kim, Min Kyu;
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Korean Society of Medical Genetics and Genomics
, v.10, no.2, pp.124-127,
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