E-LIB Suche - Ergebnisse für: Lee, Hane

1

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

2

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/..

3

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/..

4

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/..

5

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/..

6

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/..

7

A novel de novo frameshift variant in the CHD2 gene related..:

Mir, Atefeh ; Song, Yongjun ; Lee, Hane..
Molecular Genetics & Genomic Medicine. 12 (2023) 1 - p. , 2023

Link: https://doi.org/10.1002/..

8

A deleterious frameshift insertion mutation in the ZNF142 g..:

Mir, Atefeh ; Song, Yongjun ; Lee, Hane...
Molecular Genetics & Genomic Medicine. 11 (2023) 12 - p. , 2023

Link: https://doi.org/10.1002/..

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/..

10

Molecular and phenotypical findings of a novel de novo SYNG..:

Mir, Atefeh ; Song, Yongjun ; Lee, Hane...
Laboratory Medicine. 55 (2023) 2 - p. 204-208 , 2023

Link: https://doi.org/10.1093/..

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/..

12

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/..

13

Whole exome sequencing revealed variants in four genes unde..:

Mir, Atefeh ; Song, Yongjun ; Lee, Hane...
BMC Medical Genomics. 16 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

14

A novel heterozygous truncating variant in the AGO1 gene in..:

Mir, Atefeh ; Khorram, Erfan ; Song, Yongjun..
Annals of Human Genetics. 87 (2023) 6 - p. 295-301 , 2023

Link: https://doi.org/10.1111/..

15

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/..