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1 . Academic Journal
Exome and genome sequencing for diagnosing patients with suspected rare genetic disease
저자
by
Go Hun Seo
;
Hane Lee
.
소스
Journal of Genetic Medicine, 20(2), pp.31-38 Dec, 2023
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4 . Academic Journal
Prospective evaluation of the clinical utility of whole-exome sequencing using buccal swabbing for undiagnosed rare diseases
저자
by
전종근
;
신용범
;
김수연
;
Go Hun Seo
;
Hane Lee
, et al.
소스
Journal of Genetic Medicine, 19(2), pp.76-84 Dec, 2022
Full Text (스콜라)
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7 . Academic Journal
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
저자
by
Emily Banks
;
Vincent Francis
;
Sheng-Jia Lin
;
Fares Kharfallah
;
Vladimir Fonov
, et al.
소스
Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
High prevalence of ALPK3 premature terminating variants in Korean hypertrophic cardiomyopathy patients
저자
by
Seung Woo Ryu
;
Won Chan Jeong
;
Geu Ru Hong
;
Jung Sun Cho
;
Soo Yong Lee
, et al.
소스
Frontiers in Cardiovascular Medicine, Vol 11 (2024)
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7 . Academic Journal
구매 결정후의 인지부조화가 구매후 정보탐색 행동에 미치는 영향
Effect of Cognitive Dissonance on Postpurchase Information Search Behavior
저자
by
김재휘
;
이해인
;
Jae-Hwi KIM
;
Hane LEE
.
소스
광고학연구, 12/30/2006, Vol. 17, Issue 5, p. 7-18
Full Text (eArticle)
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6 . Academic Journal
Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature
저자
by
Atefeh Mir
;
Yongjun Song
;
Hane Lee
;
Hossein Khanahmad
;
Erfan Khorram
, et al.
소스
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-20 (2023)
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7 . Academic Journal
Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family
저자
by
Seung Woo Ryu
;
Ji‐Hee Yoon
;
Dong‐wook Kim
;
Beomman Han
;
Heonjong Han
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 12, Iss 3, Pp n/a-n/a (2024)
Open Access (Wiley)
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7 . Academic Journal
A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE‐1 insertion in LDLR
저자
by
Yongjun Song
;
Reham Abdel Haleem Abo Elwafa
;
Omneya Magdy Omar
;
Go Hun Seo
;
Hane Lee
.
소스
Molecular Genetics & Genomic Medicine, Vol 12, Iss 3, Pp n/a-n/a (2024)
Open Access (Wiley)
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Scopus
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7 . Academic Journal
Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling
저자
by
Yin-Hsi Chang
;
Eugene Yu-Chuan Kang
;
Laura Liu
;
Laura A. Jenny
;
Rin Khang
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-5 (2023)
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7 . Academic Journal
A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review
저자
by
Atefeh Mir
;
Yongjun Song
;
Hane Lee
;
Mostafa Montazer‐Zohouri
;
Marziyeh Reisi
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
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