E-LIB Suche - Ergebnisse für: Alkanderi, Sumaya

1

Early Diagnosis of Classic Homocystinuria in Kuwait through..:

Alsharhan, Hind ; Ahmed, Amir A. ; Ali, Naser M....
International Journal of Neonatal Screening. 7 (2021) 3 - p. 56 , 2021

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

2

Variable Phenotypes Seen with a Homozygous CYP24A1 Mutation..:

Elston, Marianne S. ; Du Toit, Stephen ; Alkanderi, Sumaya...
SN Comprehensive Clinical Medicine. 2 (2020) 7 - p. 995-1002 , 2020

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

3

Novel CYP24A1 Mutation in a Young Male Patient with Nephrol..:

Jiráčková, Jana ; Hyšpler, Radomir ; Alkanderi, Sumaya...
Kidney and Blood Pressure Research. 44 (2019) 4 - p. 870-877 , 2019

Link: https://doi.org/10.1159/..

4

Targeted exon skipping rescues ciliary protein composition ..:

Molinari, Elisa ; Ramsbottom, Simon A. ; Srivastava, Shalabh...
Scientific Reports. 9 (2019) 1 - p. , 2019

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

5

Targeted exon skipping of aCEP290mutation rescues Joubert s..:

Ramsbottom, Simon A. ; Molinari, Elisa ; Srivastava, Shalabh...
Proceedings of the National Academy of Sciences. 115 (2018) 49 - p. 12489-12494 , 2018

Link: https://doi.org/10.1073/..

6

Targeted exon skipping of a CEP290 mutation rescues Joubert..:

Ramsbottom, Simon A. ; Molinari, Elisa ; Srivastava, Shalabh...
Proceedings of the National Academy of Sciences of the United States of America. 115 (2018) 49 - p. 12489-12494 , 2018

Link: https://www.jstor.org/st..

7

Human urine-derived renal epithelial cells provide insights..:

Molinari, Elisa ; Decker, Eva ; Mabillard, Holly...
European Journal of Human Genetics. 26 (2018) 12 - p. 1791-1796 , 2018

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

8

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary..:

Alkanderi, Sumaya ; Molinari, Elisa ; Shaheen, Ranad...
The American Journal of Human Genetics. 103 (2018) 4 - p. 612-620 , 2018

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

9

A human patient-derived cellular model of Joubert syndrome ..:

Srivastava, Shalabh ; Ramsbottom, Simon A ; Molinari, Elisa...
Human Molecular Genetics. 26 (2017) 23 - p. 4657-4667 , 2017

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

10

Biallelic CYP24A1 variants presenting during pregnancy: cli..:

Griffin, Tomás P ; Joyce, Caroline M ; Alkanderi, Sumaya...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7354719/. , 2020

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

11

Investigating inherited renal disorders and identification ..:

Alkanderi, Sumaya
http://theses.ncl.ac.uk/jspui/handle/10443/4663. , 2019

Link: http://theses.ncl.ac.uk/..

12

Targeted exon skipping rescues ciliary protein composition ..:

Molinari, Elisa ; Ramsbottom, Simon A ; Srivastava, Shalabh...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6658666/. , 2019

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

13

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary..:

Alkanderi, Sumaya ; Molinari, Elisa ; Shaheen, Ranad...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174286/. , 2018

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

14

Acidosis and Deafness in Patients with Recessive Mutations ..:

Enerbäck, Sven ; Nilsson, Daniel ; Edwards, Noel...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5827603/. , 2018

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

15

Human urine-derived renal epithelial cells provide insights..:

Molinari, Elisa ; Decker, Eva ; Mabillard, Holly...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244279/. , 2018

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