E-LIB Suche - Ergebnisse für: Alkowari, Moza

1

Qatar's Genetic Counseling Landscape: Current Insights and ..:

Abiib, Sumaya ; Khodjet-El-khil, Houssein ; El-Akouri, Karen...
Genetics in Medicine Open. , 2024

2

Functional Characterization of the MYO6 Variant p.E60Q in N..:

Alkowari, Moza ; Espino-Guarch, Meritxell ; Daas, Sahar...
International Journal of Molecular Sciences. 23 (2022) 6 - p. 3369 , 2022

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

3

Targeted sequencing identifies novel variants involved in a..:

Alkowari, Moza K. ; Vozzi, Diego ; Bhagat, Shruti...
Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. 800-802 (2017) - p. 29-36 , 2017

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

4

Increased Rate of Deleterious Variants in Long Runs of Homo..:

Mezzavilla, Massimo ; Vozzi, Diego ; Badii, Ramin...
Human Heredity. 79 (2015) 1 - p. 14-19 , 2015

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

5

Consanguinity and Hereditary Hearing Loss in Qatar:

Girotto, Giorgia ; Mezzavilla, Massimo ; Abdulhadi, Khalid...
Human Heredity. 77 (2014) 1/4 - p. 175-182 , 2014

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

6

Linkage Study and Exome Sequencing Identify a BDP1 Mutation..:

Girotto, Giorgia ; Abdulhadi, Khalid ; Buniello, Annalisa...
PLoS ONE. 8 (2013) 12 - p. e80323 , 2013

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

7

Asthma and the Missing Heritability Problem: Necessity for ..:

Augustine, Tracy ; Al-Aghbar, Mohammad Ameen ; Al-Kowari, Moza..
Frontiers in Immunology. 13 (2022) - p. , 2022

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

8

Targeting Wnt/EZH2/microRNA-708 signaling pathway inhibits ..:

Shan, Jingxuan ; Al-Muftah, Mariam A. ; Al-Kowari, Moza K....
Cell Death Discovery. 5 (2019) 1 - p. , 2019

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

9

Increased Rate of Deleterious Variants in Long Runs of Homo..:

Mezzavilla, Massimo ; Vozzi, Diego ; Badii, Ramin...
Human Heredity. 79 (2015) 1 - p. 14-19 , 2015

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

10

Consanguinity and Hereditary Hearing Loss in Qatar:

Girotto, Giorgia ; Mezzavilla, Massimo ; Abdulhadi, Khalid...
Human Heredity. 77 (2014) 1-4 - p. 175-182 , 2014

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

11

Neuronal Ceroid Lipofuscinosis in Qatar: Report of a Novel ..:

Al-Kowari, Moza K. ; Hassan, Sara ; El-Said, Mahmoud F....
Journal of Child Neurology. 26 (2011) 5 - p. 625-629 , 2011

Link: https://doi.org/10.1177/..

12

The p.Cys169Tyr variant of connexin 26 is not a polymorphis:

Zonta, Francesco ; Girotto, Giorgia ; Buratto, Damiano...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2015

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

13

The p.Cys169Tyr variant of connexin 26 is not a polymorphis:

Zonta, Francesco ; Buratto, Damiano ; Crispino, Giulia...
info:eu-repo/semantics/altIdentifier/pmid/25628337. , 2015

Link: http://hdl.handle.net/11..

14

Linkage study and exome sequencing identify a BDP1 mutation..:

Girotto, Giorgia ; Abdulhadi, Khalid ; Buniello, Annalisa...
Girotto , G , Abdulhadi , K , Buniello , A , Vozzi , D , Licastro , D , D'Eustacchio , A , Vuckovic , D , Alkowari , M K , Steel , K P , Badii , R & Gasparini , P 2013 , ' Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss ' , PL o S One , vol. 8 , no. 12 , e80323 . https://doi.org/10.1371/journal.pone.0080323. , 2013

Link: https://kclpure.kcl.ac.u..

15

Linkage study and exome sequencing identify a BDP1 mutation..:

Girotto, Giorgia ; Abdulhadi, Khalid ; Buniello, Annalisa...
Girotto , G , Abdulhadi , K , Buniello , A , Vozzi , D , Licastro , D , D'Eustacchio , A , Vuckovic , D , Alkowari , M K , Steel , K P , Badii , R & Gasparini , P 2013 , ' Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss ' , PL o S One , vol. 8 , no. 12 , e80323 . https://doi.org/10.1371/journal.pone.0080323. , 2013

Link: https://kclpure.kcl.ac.u..