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| 1 |
Progress, challenges, and future perspectives in genetic researches of stuttering
Kang, Changsoo;
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Korean Society of Medical Genetics and Genomics
, v.18, no.2, pp.75-82,
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| 2 |
Analyzing clinical and genetic aspects of axonal Charcot-Marie-Tooth disease
Kwon, Hye Mi;Choi, Byung-Ok;
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Korean Society of Medical Genetics and Genomics
, v.18, no.2, pp.83-93,
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| 3 |
Medical genomic approach to early-onset scoliosis
Yim, Shin-Young;
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Korean Society of Medical Genetics and Genomics
, v.18, no.2, pp.94-100,
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| 4 |
A female patient with Xp21 gene deletion syndrome
Kim, Jungeun;Lee, Hyunjoo;Na, Ji-Hoon;Lee, Young-Mock;
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Korean Society of Medical Genetics and Genomics
, v.18, no.2, pp.101-104,
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| 5 |
Pediatric tetrasomy 18p presenting as a spastic cerebral palsy: A case report
Lim, Ikhyun;Park, Sang Hee;Suh, Mi Ri;Kwak, Hyunseok;Park, Wookyung;Shim, Sung Han;Kim, MinYoung;
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Korean Society of Medical Genetics and Genomics
, v.18, no.2, pp.105-109,
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| 6 |
A case of follow-up of a patient with 22q11.2 distal deletion syndrome and a review of the literature
Ha, Dong Jun;Park, Ji Sun;Jang, Woori;Jung, Na-young;Kim, Su Jin;Moon, Yeonsook;Lee, Jieun;
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Korean Society of Medical Genetics and Genomics
, v.18, no.2, pp.110-116,
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| 7 |
Prenatal detection of Xq deletion by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis: A case report
Kim, Bo Ram;Kim, Rina;Cho, Angela;Kang, Hye Sim;Park, Chul Min;Kim, Sung Yob;Shim, Soon Sup;
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Korean Society of Medical Genetics and Genomics
, v.18, no.2, pp.117-120,
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| 8 |
Chronic progressive external ophthalmoplegia in a Saudi patient with a mutation in the POLG gene successfully managed with bilateral frontalis sling
Algahtani, Hussein;Shirah, Bader;Alsaggaf, Khalid;Al-Qahtani, Mohammad H.;Abdulkareem, Angham Abdulrahman;Naseer, Muhammad Imran;Abuzinadah, Ahmad R.;
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Korean Society of Medical Genetics and Genomics
, v.18, no.2, pp.121-126,
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| 9 |
Two Korean siblings with autosomal recessive spinocerebellar ataxia 20 caused by homozygous variants in SNX14
Kim, Ae Ryoung;Lee, Jong-Mok;Seo, Go Hun;Lee, Sang In;Bae, Hyunwoo;Lee, Yun Jeong;
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Korean Society of Medical Genetics and Genomics
, v.18, no.2, pp.127-131,
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| 10 |
A rare, likely pathogenic GCK variant related to maturity-onset diabetes of the young type 2: A case report
So, Min-Kyung;Huh, Jungwon;Kim, Hae Soon;
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Korean Society of Medical Genetics and Genomics
, v.18, no.2, pp.132-136,
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| 11 |
Effective ketogenic diet in CACNA1A-related 'epilepsy of infancy with migrating focal seizures'
Na, Hyejin;Lee, Sanghoon;Kim, Young Ok;
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Korean Society of Medical Genetics and Genomics
, v.18, no.2, pp.137-141,
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| 12 |
A patient with multiple arterial stenosis diagnosed with Alagille syndrome: A case report
Lee, Yoon Ha;Jeon, Yong Hyuk;Lim, Seon Hee;Ahn, Yo Han;Lee, Sang-Yun;Ko, Jung min;Ha, II-Soo;Kang, Hee Gyung;
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Korean Society of Medical Genetics and Genomics
, v.18, no.2, pp.142-146,
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| 13 |
A neonate with Say-Barber-Biesecker-Young-Simpson syndrome with a novel pathogenic mutation in KAT6B gene: A case report
Shin, Ji Hye;Lim, Han Hyuk;Gang, Mi Hyeon;Kim, Seon Young;Yang, Shin-seung;Chang, Mea-young;
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Korean Society of Medical Genetics and Genomics
, v.18, no.2, pp.147-151,
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