E-LIB Suche - Ergebnisse für: Ben-Salem, Salma

1

Entwined African and Asian genetic roots of medieval people..:

Brielle, Esther S. ; Fleisher, Jeffrey ; Wynne-Jones, Stephanie...
Nature. 615 (2023) 7954 - p. 866-873 , 2023

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

2

Diversity in Androgen Receptor Action Among Treatment-naïve..:

Ben-Salem, Salma ; Hu, Qiang ; Liu, Yang...
European Urology Open Science. 22 (2020) - p. 34-44 , 2020

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

3

Protein Kinase N1 control of androgen-responsive serum resp..:

Venkadakrishnan, Varadha Balaji ; DePriest, Adam D. ; Kumari, Sangeeta...
Oncogene. 38 (2019) 23 - p. 4496-4511 , 2019

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

4

Compound heterozygous variants in the multiple PDZ domain p..:

Al-Jezawi, Nesreen K. ; Al-Shamsi, Aisha M. ; Suleiman, Jehan...
BMC Medical Genetics. 19 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..

5

A comprehensive analysis of coregulator recruitment, androg..:

Liu, Song ; Kumari, Sangeeta ; Hu, Qiang...
eLife. 6 (2017) - p. , 2017

Link: https://doi.org/10.7554/..

6

Correction: A comprehensive analysis of coregulator recruit..:

Liu, Song ; Kumari, Sangeeta ; Hu, Qiang...
eLife. 6 (2017) - p. , 2017

Link: https://doi.org/10.7554/..

7

A homozygous splicing mutation in ELAC2 suggests phenotypic..:

Akawi, Nadia A. ; Ben-Salem, Salma ; Hertecant, Jozef...
Orphanet Journal of Rare Diseases. 11 (2016) 1 - p. , 2016

Link: https://doi.org/10.1186/..

8

Erratum: Mutation spectrum of Joubert syndrome and related ..:

Ben-Salem, Salma ; Al-Shamsi, Aisha M ; Gleeson, Joseph G..
Human Genome Variation. 2 (2015) 1 - p. , 2015

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

9

A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Ca..:

Komara, Makanko ; Al-Shamsi, Aisha M. ; Ben-Salem, Salma..
Journal of Molecular Neuroscience. 57 (2015) 3 - p. 393-399 , 2015

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

10

Transaldolase deficiency caused by the homozygous p.R192C m..:

Al-Shamsi, Aisha M. ; Ben-Salem, Salma ; Hertecant, Jozef.
European Journal of Pediatrics. 174 (2014) 5 - p. 661-668 , 2014

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

11

Asparagine synthetase deficiency detected by whole exome se..:

Ben-Salem, Salma ; Gleeson, Joseph G. ; Al-Shamsi, Aisha M....
Metabolic Brain Disease. 30 (2014) 3 - p. 687-694 , 2014

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

12

METTL23, a transcriptional partner of GABPA, is essential f..:

Reiff, Rachel E. ; Ali, Bassam R. ; Baron, Byron...
Human Molecular Genetics. 23 (2014) 13 - p. 3456-3466 , 2014

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

13

A Novel Whole Exon Deletion in WWOX Gene Causes Early Epile..:

Ben-Salem, Salma ; Al-Shamsi, Aisha M. ; John, Anne..
Journal of Molecular Neuroscience. 56 (2014) 1 - p. 17-23 , 2014

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

14

Mutation spectrum of Joubert syndrome and related disorders..:

Ben-Salem, Salma ; Al-Shamsi, Aisha M ; Gleeson, Joseph G..
Human Genome Variation. 1 (2014) 1 - p. , 2014

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

15

The mutational spectrum of the NF1 gene in neurofibromatosi..:

Ben-Salem, Salma ; Al-Shamsi, Aisha M. ; Ali, Bassam R..
Child's Nervous System. 30 (2014) 7 - p. 1183-1189 , 2014

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