E-LIB Suche - Ergebnisse für: Valivullah, Zaheer

1

Frameshift variants in C10orf71 cause dilated cardiomyopath..:

Li, Yang ; Ma, Ke ; Dong, Zhujun...
Journal of Clinical Investigation. 134 (2024) 12 - p. , 2024

Link: https://doi.org/10.1172/..

2

Correlating Testing for Rare Genetic Variants with a Broad ..:

Jayaraman, Divya ; Genetti, Casie ; Aykanat, Asli...
Neurology. 100 (2023) 17_supplement_2 - p. , 2023

Link: https://doi.org/10.1212/..

3

COL4A1 mutations as a potential novel cause of autosomal do..:

Kitzler, Thomas M. ; Schneider, Ronen ; Kohl, Stefan...
Human Genetics. 138 (2019) 10 - p. 1105-1115 , 2019

Link: https://doi.org/10.1007/..

4

Distributed Cognition and Process Management Enabling Indiv..:

Links, Amanda E. ; Draper, David ; Lee, Elizabeth...
Frontiers in Medicine. 3 (2016) - p. , 2016

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

5

An anthrax toxin variant with an improved activity in tumor..:

Wein, Alexander N. ; Peters, Diane E. ; Valivullah, Zaheer...
Scientific Reports. 5 (2015) 1 - p. , 2015

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

6

The Undiagnosed Diseases Program Integrated Collaboration S..:

Guzman, Jessica ; Lee, Elizabeth ; Draper, David...
Children. 2 (2015) 3 - p. 342-357 , 2015

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

7

FXR1-related congenital myopathy: expansion of the clinical..:

Mroczek, Magdalena ; Longman, Cheryl ; Farrugia, Maria Elena...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9537361/. , 2022

Link: http://www.ncbi.nlm.nih...

8

Unique variants in CLCN3, encoding an endosomal anion/proto..:

Duncan, Anna R ; Polovitskaya, Maya M ; Gaitán-Peñas, Héctor...
qt2cw9q317. , 2021

Link: https://escholarship.org..

9

COL4A1 mutations as a potential novel cause of autosomal do..:

Kitzler, Thomas M ; Schneider, Ronen ; Kohl, Stefan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745245/. , 2019

Link: http://www.ncbi.nlm.nih...

10

Distributed Cognition and Process Management Enabling Indiv..:

Links, Amanda E ; Draper, David ; Lee, Elizabeth...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5060938/. , 2016

Link: http://www.ncbi.nlm.nih...

11

Distributed Cognition and Process Management Enabling Indiv..:

Links, Amanda E ; Draper, David ; Lee, Elizabeth...
qt5918z6fz. , 2016

Link: https://escholarship.org..

12

An anthrax toxin variant with an improved activity in tumor..:

Wein, Alexander N ; Peters, Diane E ; Valivullah, Zaheer...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4653645/. , 2015

Link: http://www.ncbi.nlm.nih...

13

The Undiagnosed Diseases Program Integrated Collaboration S..:

Guzman, Jessica ; Lee, Elizabeth ; Draper, David...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4928766/. , 2015

Link: http://www.ncbi.nlm.nih...

14

A novel homozygous variant in TRAPPC2L results in a neurode..:

Al-Deri, Noraldin ; Okur, Volkan ; Ahimaz, Priyanka...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7904957/. , 2020

Link: http://www.ncbi.nlm.nih...

15

One-year pilot study on the effects of nitisinone on melani..:

Adams, David R ; Menezes, Supriya ; Jauregui, Ramon...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413781/. , 2019

Link: http://www.ncbi.nlm.nih...