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Lee, Hane
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1

High prevalence of ALPK3 premature terminating variants in ..:

Ryu, Seung Woo ; Jeong, Won Chan ; Hong, Geu Ru...
Frontiers in Cardiovascular Medicine.  11 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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2

Reanalysis of RNA sequencing data ends diagnostic odyssey a..:

McNamee, Lucy ; Schoch, Kelly ; Huang, Alden...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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3

A case report of an Egyptian family with familial hyperchol..:

Song, Yongjun ; Elwafa, Reham Abdel Haleem Abo ; Omar, Omneya Magdy..
Molecular Genetics & Genomic Medicine.  12 (2024)  3 - p. , 2024
Link: https://doi.org/10.1002/..
 
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4

Whole exome sequencing in Serbian patients with hereditary ..:

Brankovic, Marija ; Ivanovic, Vukan ; Basta, Ivana...
Neurogenetics.  25 (2024)  3 - p. 165-177 , 2024
Link: https://doi.org/10.1007/..
 
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5

Identification of a complex intrachromosomal inverted inser..:

Ryu, Seung Woo ; Yoon, Ji‐Hee ; Kim, Dong‐wook...
Molecular Genetics & Genomic Medicine.  12 (2024)  3 - p. , 2024
Link: https://doi.org/10.1002/..
 
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6

Characterization of spastic paraplegia in a family with a n..:

Ringman, John M ; Dorrani, Naghmeh ; Fernández, Sara Gutiérrez...
Brain Communications.  5 (2023)  2 - p. , 2023
Link: https://doi.org/10.1093/..
 
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7

THU159 Identifying Causative Genes For Pituitary Hormone De..:

Mayer, Julian Martinez ; Hackbartt, Martina ; Garcia, Lucia Iglesias...
Journal of the Endocrine Society.  7 (2023)  Supplement_1 - p. , 2023
Link: https://doi.org/10.1210/..
 
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8

Exome and genome sequencing for diagnosing patients with su..:

Seo, Go Hun ; Lee, Hane
Journal of Genetic Medicine.  20 (2023)  2 - p. 31-38 , 2023
Link: https://doi.org/10.5734/..
 
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9

Bi-allelic loss-of-function variants in WBP4, encoding a sp..:

Engal, Eden ; Oja, Kaisa Teele ; Maroofian, Reza...
The American Journal of Human Genetics.  110 (2023)  12 - p. 2112-2119 , 2023
Link: https://doi.org/10.1016/..
 
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10

RAF1 deficiency causes a lethal syndrome that underscores R..:

Wong, Samantha ; Tan, Yu Xuan ; Loh, Abigail Yi Ting...
EMBO Molecular Medicine.  15 (2023)  5 - p. , 2023
Link: https://doi.org/10.15252..
 
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11

Does it pay to park in front of a fire hydrant?:

Andrade, Chris ; Auerbach, Jonathan ; Bacelar, Icaro...
Significance.  20 (2023)  1 - p. 28-30 , 2023
Link: https://doi.org/10.1093/..
 
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12

Maternal mosaicism in SSBP1 causing optic atrophy with reti..:

Chang, Yin-Hsi ; Kang, Eugene Yu-Chuan ; Liu, Laura...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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13

P661: A database of high allele frequency variants from exo..:

Kwon, Kisang ; Hyun, Seong-in ; Han, Heonjong..
Genetics in Medicine Open.  1 (2023)  1 - p. 100726 , 2023
Link: https://doi.org/10.1016/..
 
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14

P660: Accelerating novel gene discovery utilizing a constra..:

Chan Jeong, Won ; Kwon, Kisang ; Ryu, Seung Woo...
Genetics in Medicine Open.  1 (2023)  1 - p. 100725 , 2023
Link: https://doi.org/10.1016/..
 
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15

P313: A case report of an Egyptian family with hypercholest..:

Song, Yongjun ; Elwafa, Reham ; Omar, Omneya..
Genetics in Medicine Open.  1 (2023)  1 - p. 100341 , 2023
Link: https://doi.org/10.1016/..
 
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