E-LIB Suche - Ergebnisse für: Spinner, Nancy B.

1

Generation of an Alagille Syndrome (ALGS) patient-derived i..:

Hatim, Omer ; Xu, Miao ; Pavlinov, Ivan...
Stem Cell Research. 77 (2024) - p. 103429 , 2024

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

2

Functional characterization of 2,832 JAG1 variants supports..:

Gilbert, Melissa A. ; Keefer-Jacques, Ernest ; Jadhav, Tanaya...
The American Journal of Human Genetics. , 2024

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

3

Advanced approach for comprehensive mtDNA genome testing in..:

Wang, Jing ; Balciuniene, Jorune ; Diaz-Miranda, Maria Alejandra...
Molecular Genetics and Metabolism. 135 (2022) 1 - p. 93-101 , 2022

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

4

Natural history of liver disease in a large international c..:

Vandriel, Shannon M. ; Li, Li‐Ting ; She, Huiyu...
Hepatology. 77 (2022) 2 - p. 512-529 , 2022

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

5

Genome sequencing increases diagnostic yield in clinically ..:

Rajagopalan, Ramakrishnan ; Gilbert, Melissa A. ; McEldrew, Deborah A....
Genetics in Medicine. 23 (2021) 2 - p. 323-330 , 2021

Link: https://doi.org/10.1038/..

6

Alagille Syndrome:

, In: Liver Disease in Children,

Kamath, Binita M. ; Spinner, Nancy B. ; Piccoli, David A. - p. 222-241 , 2021

Link: https://doi.org/10.1017/..

7

Genomic Diagnosis for Pediatric Disorders: Revolution and E..:

Lalonde, Emilie ; Rentas, Stefan ; Lin, Fumin...
Frontiers in Pediatrics. 8 (2020) - p. , 2020

Link: https://doi.org/10.3389/..

8

Alagille syndrome and risk for hepatocellular carcinoma: Ne..:

Schindler, Emma A. ; Gilbert, Melissa A. ; Piccoli, David A....
American Journal of Medical Genetics Part A. 185 (2020) 3 - p. 719-731 , 2020

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

9

Outcomes of Childhood Cholestasis in Alagille Syndrome: Res..:

Kamath, Binita M. ; Ye, Wen ; Goodrich, Nathan P....
Hepatology Communications. 4 (2020) 3 - p. 387-398 , 2020

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

10

A six-attribute classification of geneticmosaicism:

Martínez-Glez, Víctor ; Tenorio, Jair ; Nevado, Julián...
Genetics in Medicine. 22 (2020) 11 - p. 1743-1757 , 2020

Link: https://doi.org/10.1038/..

11

Variants encoding a restricted carboxy-terminal domain of S..:

Mutai, Hideki ; Wasano, Koichiro ; Momozawa, Yukihide...
PLOS Genetics. 16 (2020) 4 - p. e1008643 , 2020

Link: https://doi.org/10.1371/..

12

Exome Sequencing in Individuals with Isolated Biliary Atres..:

Rajagopalan, Ramakrishnan ; Tsai, Ellen A. ; Grochowski, Christopher M....
Scientific Reports. 10 (2020) 1 - p. , 2020

Link: https://doi.org/10.1038/..

13

Impaired Redox and Protein Homeostasis as Risk Factors and ..:

Zhao, Xiao ; Lorent, Kristin ; Escobar-Zarate, Diana...
Gastroenterology. 159 (2020) 3 - p. 1068-1084.e2 , 2020

Link: https://doi.org/10.1053/..

14

Alagille syndrome mutation update: Comprehensive overview o..:

Gilbert, Melissa A. ; Bauer, Robert C. ; Rajagopalan, Ramakrishnan...
Human Mutation. 40 (2019) 12 - p. 2197-2220 , 2019

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

15

Rapid and accurate interpretation of clinical exomes using ..:

Wu, Chao ; Devkota, Batsal ; Evans, Perry...
European Journal of Human Genetics. 27 (2019) 4 - p. 612-620 , 2019

Link: https://doi.org/10.1038/..