E-LIB Suche - Ergebnisse für: Loomes, Kathleen

1

A mutational hotspot in AMOTL1 defines a new syndrome of or..:

Strong, Alanna ; Rao, Soumya ; von Hardenberg, Sandra...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1227-1239 , 2023

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

2

EP1231: ODEVIXIBAT THERAPY IMPROVES CLINICALLY MEANINGFUL E..:

Thompson, Richard J. ; D'Antiga, Lorenzo ; Gonzalès, Emmanuel...
Gastroenterology. 162 (2022) 7 - p. S-1296 , 2022

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

3

422 ORAL VANCOMYCIN THERAPY IS ASSOCIATED WITH IBD CLINICAL..:

Ricciuto, Amanda ; Liu, Kuan ; Amir, Achiya Z....
Gastroenterology. 160 (2021) 6 - p. S-88 , 2021

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

4

A new syndrome of moyamoya disease, kidney dysplasia, amino..:

Strong, Alanna ; O'Grady, Gina ; Shih, Evelyn...
American Journal of Medical Genetics Part A. 185 (2021) 7 - p. 2168-2174 , 2021

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

5

TRMU deficiency: a broad clinical spectrum responsive to cy..:

Murali, Chaya ; Soler-Alfonso, Claudia ; Loomes, Kathleen...
Molecular Genetics and Metabolism. 132 (2021) - p. S13-S14 , 2021

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

6

Clinical features and natural history of 1154 Alagille synd..:

Vandriel, Shannon M. ; Liting, Li ; She, Huiyu...
Journal of Hepatology. 73 (2020) - p. S554-S555 , 2020

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

7

Acute liver dysfunction with delayed peak of serum aminotra..:

Clarkston, Kathryn ; Lee, Joy ; Donoghue, Sarah...
American Journal of Medical Genetics Part A. 185 (2020) 3 - p. 909-915 , 2020

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

8

Serum bile acid control in long-term maralixibat-treated pa..:

Thompson, Richard ; Kelly, Deirdre ; Miethke, Alexander...
Journal of Hepatology. 73 (2020) - p. S120 , 2020

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

9

LBO-08-Growth analysis in children with progressive familia..:

Thompson, Richard ; Kelly, Deirdre ; Rajwal, Sanjay...
Journal of Hepatology. 70 (2019) 1 - p. e131-e132 , 2019

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

10

502 - Natural History and Risk Factors for Variceal Hemorrh..:

Bass, Lee ; Ye, Wen ; Hawthorne, Kieran...
Gastroenterology. 154 (2018) 6 - p. S-1092 , 2018

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

11

Benefits and limitations of a multidisciplinary approach to..:

January, Kathleen ; Conway, Laura J. ; Deardorff, Matthew...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 172 (2016) 2 - p. 237-245 , 2016

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

12

Cranial neural crest ablation of Jagged1 recapitulates the ..:

Humphreys, Ryan ; Zheng, Wei ; Prince, Lawrence S...
Human Molecular Genetics. 21 (2011) 6 - p. 1374-1383 , 2011

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

13

Causes of death and autopsy findings in a large study cohor..:

Schrier, Samantha A. ; Sherer, Ilana ; Deardorff, Matthew A....
American Journal of Medical Genetics Part A. 155 (2011) 12 - p. 3007-3024 , 2011

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

14

Notch pathway mutants display craniofacial birth defects an..:

Sewell, Will ; Stevens, Stacey ; Gonzalez, Dorian...
Developmental Biology. 319 (2008) 2 - p. 585-586 , 2008

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

15

Translin-associated Factor X Is Post-transcriptionally Regu..:

Yang, Shicheng ; Cho, Yoon Shin ; Chennathukuzhi, Vargheese M....
Journal of Biological Chemistry. 279 (2004) 13 - p. 12605-12614 , 2004

Link: https://doi.org/10.1074/..