E-LIB Suche - Ergebnisse für: Anazi, Shamsa

1

Accelerating matchmaking of novel dysmorphology syndromes t..:

Shaheen, Ranad ; Patel, Nisha ; Shamseldin, Hanan...
Genetics in Medicine. 18 (2016) 7 - p. 686-695 , 2016

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

2

Expanding the clinical, allelic, and locus heterogeneity of..:

Patel, Nisha ; Aldahmesh, Mohammed A. ; Alkuraya, Hisham...
Genetics in Medicine. 18 (2016) 6 - p. 554-562 , 2016

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

3

Confirming the candidacy of THOC6 in the etiology of intell..:

Anazi, Shamsa ; Alshammari, Muneera ; Moneis, Dorota...
American Journal of Medical Genetics Part A. 170 (2016) 5 - p. 1367-1369 , 2016

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

4

The clinical utility of molecular karyotyping for neurocogn..:

Al-Qattan, Sarah M. ; Wakil, Salma M. ; Anazi, Shamsa...
Genetics in Medicine. 17 (2015) 9 - p. 719-725 , 2015

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

5

Accelerating Novel Candidate Gene Discovery in Neurogenetic..:

Alazami, Anas M. ; Patel, Nisha ; Shamseldin, Hanan E....
Cell Reports. 10 (2015) 2 - p. 148-161 , 2015

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

6

Transaldolase deficiency: report of 12 new cases and furthe..:

Eyaid, Wafaa ; Al Harbi, Talal ; Anazi, Shamsa...
Journal of Inherited Metabolic Disease. 36 (2013) 6 - p. 997-1004 , 2013

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

7

A Novel Homozygous Mutation in G6PC3 Presenting as Cyclic N..:

Alangari, Abdullah A. ; Alsultan, Abdulrahman ; Osman, Mohamed Elfaki..
Journal of Clinical Immunology. 33 (2013) 8 - p. 1403-1406 , 2013

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

8

Mutations in LRPAP1 Are Associated with Severe Myopia in Hu..:

Aldahmesh, Mohammed A. ; Khan, Arif O. ; Alkuraya, Hisham...
The American Journal of Human Genetics. 93 (2013) 2 - p. 313-320 , 2013

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

9

Autozygome Sequencing Expands the Horizon of Human Knockout..:

Alsalem, Ahmed B. ; Halees, Anason S. ; Anazi, Shamsa...
PLoS Genetics. 9 (2013) 12 - p. e1004030 , 2013

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

10

Autozygome-guided exome sequencing in retinal dystrophy pat..:

Abu-Safieh, Leen ; Alrashed, May ; Anazi, Shamsa...
Genome Research. 23 (2012) 2 - p. 236-247 , 2012

Link: https://doi.org/10.1101/..

11

In Vitro Antioxidant, Cytotoxic Activities, and Phenolic Pr..:

Alqahtani, Ali S. ; Herqash, Rashed N. ; Noman, Omar M....
Evidence-Based Complementary and Alternative Medicine. 2020 (2020) - p. 1-9 , 2020

Link: https://doi.org/10.1155/..

12

Cichorins D–F: Three New Compounds from Cichorium intybus a..:

Khan, Muhammad Farooq ; Nasr, Fahd A. ; Noman, Omar M....
Molecules. 25 (2020) 18 - p. 4160 , 2020

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

13

An siRNA-based functional genomics screen for the identific..:

Wheway, Gabrielle ; Schmidts, Miriam ; Mans, Dorus A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536769/. , 2015

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

14

Autozygome-guided exome sequencing in retinal dystrophy pat..:

Abu-Safieh, Leen ; Alrashed, May ; Anazi, Shamsa...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3561865. , 2013

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

15

Mutations in LRPAP1 Are Associated with Severe Myopia in Hu..:

Aldahmesh, Mohammed A ; Khan, Arif O ; Alkuraya, Hisham...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738831. , 2013

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