E-LIB Suche - Ergebnisse für: Hung, Christina

1

Development of a scoring system to define lysosomal disease:

Yuzyuk, Tatiana ; Wilk, Matheus Vernet Machado Bressan ; Goldstein, Jenny...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108294 , 2024

Link: https://doi.org/10.1016/..

2

Development of a scoring system to define lysosomal disease:

Wilke, Matheus V. ; Goldstein, Jennifer ; Groopman, Emily...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108083 , 2024

Link: https://doi.org/10.1016/..

3

P252: Development of a scoring system to define lysosomal d..:

Wilke, Matheus ; Goldstein, Jenny ; Groopman, Emily...
Genetics in Medicine Open. 2 (2024) - p. 101148 , 2024

Link: https://doi.org/10.1016/..

4

Applying phenotypic evidence to support the molecular diagn..:

Groopman, Emily ; Goldstein, Jenny ; Dickson, Alexa...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108165 , 2024

Link: https://doi.org/10.1016/..

5

P239: Small molecule, high throughput drug discovery for Ka..:

Ma, Xiaoting ; Hung, Christina ; Bodamer, Olaf
Genetics in Medicine Open. 1 (2023) 1 - p. 100267 , 2023

Link: https://doi.org/10.1016/..

6

The ClinGen Lysosomal Diseases Gene Curation Panel: Applyin..:

Groopman, Emily ; Fernandez, Raquel ; Mohan, Shruthi...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107128 , 2023

Link: https://doi.org/10.1016/..

7

Characterizing the molecular impact of KMT2D variants on th..:

Jung, Youngsook L ; Hung, Christina ; Choi, Jaejoon..
Human Molecular Genetics. 32 (2023) 13 - p. 2251-2261 , 2023

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

8

Multidisciplinary clinical and translational approach for o..:

Khalife, Leen ; Gottlieb, Rachel ; Daly, Tara...
Rare. 1 (2023) - p. 100008 , 2023

Link: https://doi.org/10.1016/..

9

Variant Classification for Pompe disease; ACMG/AMP specific..:

Goldstein, Jennifer L. ; McGlaughon, Jennifer ; Kanavy, Dona...
Molecular Genetics and Metabolism. 140 (2023) 1-2 - p. 107715 , 2023

Link: https://doi.org/10.1016/..

10

THE CLINGEN LYSOSOMAL DISEASES GENE CURATION EXPERT PANEL: ..:

Mao, Rong ; Groopman, Emily ; Fernandez, Raquel...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107454 , 2023

Link: https://doi.org/10.1016/..

11

From Genotype to Phenotype—A Review of Kabuki Syndrome:

Barry, Kelly K. ; Tsaparlis, Michaelangelo ; Hoffman, Deborah...
Genes. 13 (2022) 10 - p. 1761 , 2022

Link: https://doi.org/10.3390/..

12

Lysine methyltransferase 2D regulates muscle fiber size and..:

Wright, Alec ; Hall, Arielle ; Daly, Tara...
The FASEB Journal. 35 (2021) 11 - p. , 2021

Link: https://doi.org/10.1096/..

13

The phenotypic spectrum of Kabuki syndrome in patients of C..:

Wang, Yirou ; Li, Niu ; Su, Zhe...
American Journal of Medical Genetics Part A. 182 (2019) 4 - p. 640-651 , 2019

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

14

Prenatal and perinatal history in Kabuki Syndrome:

Rosenberg, Chen E. ; Daly, Tara ; Hung, Christina...
American Journal of Medical Genetics Part A. 182 (2019) 1 - p. 85-92 , 2019

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

15

Birth weight in patients with mucopolysaccharidosis type II..:

Bodamer, Olaf ; Scarpa, Maurizio ; Hung, Christina..
Molecular Genetics and Metabolism Reports. 11 (2017) - p. 62-64 , 2017

Link: https://doi.org/10.1016/..