E-LIB Suche - Ergebnisse für: Al Eissa, Mariam M

1

The perception of genetic diseases and premarital screening..:

Al Eissa, Mariam M. ; Almsned, Fahad ; Alkharji, Reem R....
BMC Public Health. 24 (2024) 1 - p. , 2024

2

Familial Screening for the Prevention of Rare Diseases: A F..:

Abuzenadah, Adel ; Alganmi, Nofe ; AlQurashi, Raghad...
Journal of Epidemiology and Global Health. 14 (2024) 1 - p. 162-168 , 2024

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

3

Perceptions of Saudis Toward Participating in the COVID-19 ..:

Al Eissa, Mariam M ; Almsned, Fahad ; AlQurashi, Raghad...
Cureus. , 2023

Link: https://doi.org/10.7759/..

4

Genetic association and functional characterization of MCPH..:

Al Eissa, Mariam M. ; Sharp, Sally I. ; O'Brien, Niamh L....
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 180 (2019) 4 - p. 258-265 , 2019

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

5

Mutation intolerant genes and targets of FMRP are enriched ..:

Leonenko, Ganna ; Richards, Alexander L. ; Walters, James T....
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 174 (2017) 7 - p. 724-731 , 2017

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

6

Exome sequence analysis and follow up genotyping implicates..:

Al Eissa, Mariam M. ; Fiorentino, Alessia ; Sharp, Sally I....
Annals of Human Genetics. 82 (2017) 2 - p. 88-92 , 2017

Link: https://doi.org/10.1111/..

7

Prospect of genetic disorders in Saudi Arabia:

Alqahtani, Amerh S ; Alotibi, Raniah S ; Aloraini, Taghrid...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10548463/. , 2023

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

8

Genetic association and functional characterization of MCPH..:

Al Eissa, Mariam M ; Sharp, Sally I ; O' Brien, Niamh L...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8005923/. , 2019

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

9

Mutation intolerant genes and targets of FMRP are enriched ..:

Leonenko, Ganna ; Richards, Alexander L ; Walters, James T...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5669020/. , 2017

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

10

Exome sequence analysis and follow up genotyping implicates..:

Al Eissa, Mariam M ; Fiorentino, Alessia ; Sharp, Sally I...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5813151/. , 2017

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

11

Rare coding variants in ten genes confer substantial risk f..:

Singh, Tarjinder ; Poterba, Timothy ; Curtis, David...
Nature. 604 (2022) 7906 - p. 509-516 , 2022

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

12

Genome-wide association study of more than 40,000 bipolar d..:

Mullins, Niamh ; Forstner, Andreas J. ; O'Connell, Kevin S....
Nature Genetics. 53 (2021) 6 - p. 817-829 , 2021

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

13

Prospect of genetic disorders in Saudi Arabia:

Amerh S. Alqahtani ; Raniah S. Alotibi ; Taghrid Aloraini...
https://www.frontiersin.org/articles/10.3389/fgene.2023.1243518/full. , 2023

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

14

Reclassifying variations of unknown significance in disease..:

Mariam M. Al Eissa ; Raniah S. Alotibi ; Bader Alhaddad...
https://www.frontiersin.org/articles/10.3389/fgene.2023.1250317/full. , 2023

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

15

Genome-wide association study of more than 40,000 bipolar d..:

Mullins, Niamh ; Forstner, Andreas J ; O'Connell, Kevin S...
https://www.nature.com/articles/s41588-021-00857-4. , 2022

Link: http://hdl.handle.net/23..