E-LIB Suche - Ergebnisse für: El Naofal, Maha

1

IFIH1 loss of function predisposes to inflammatory and SARS..:

Najm, Rania ; Yavuz, Lemis ; Jain, Ruchi...
Scandinavian Journal of Immunology. 100 (2024) 2 - p. , 2024

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

2

Spinal muscular atrophy genetic epidemiology and the case f..:

Rabea, Fatma ; El Naofal, Maha ; Chekroun, Ikram...
Communications Medicine. 4 (2024) 1 - p. , 2024

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

3

The genomic landscape of rare disorders in the Middle East:

El Naofal, Maha ; Ramaswamy, Sathishkumar ; Alsarhan, Ali...
Genome Medicine. 15 (2023) 1 - p. , 2023

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

4

P456: Genetic testing and screening for spinal muscular atr..:

El Naofal, Maha ; Tayoun, Ahmad Abou
Genetics in Medicine Open. 1 (2023) 1 - p. 100503 , 2023

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

5

Genetic determinants of severe COVID-19 in young Asian and ..:

Badla, Beshr Abdulaziz ; Hanifa, Mohamed Samer ; Jain, Ruchi...
Scientific Reports. 13 (2023) 1 - p. , 2023

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

6

Heterozygous gain of function variants in a critical region..:

Taylor, Alan ; Kashyape, Pawan S. ; Jain, Ruchi..
American Journal of Medical Genetics Part A. 191 (2023) 11 - p. 2723-2727 , 2023

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

7

Rapid whole genome sequencing of critically ill pediatric p..:

Halabi, Nour ; Ramaswamy, Sathishkumar ; El Naofal, Maha...
Genome Medicine. 14 (2022) 1 - p. , 2022

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

8

Middle Eastern Genetic Variation Improves Clinical Annotati..:

Ramaswamy, Sathishkumar ; Jain, Ruchi ; El Naofal, Maha...
Journal of Personalized Medicine. 12 (2022) 3 - p. 423 , 2022

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

9

The genomic landscape of pediatric rheumatology disorders i..:

Fathalla, Basil M. ; Alsarhan, Ali ; Afzal, Samina..
Human Mutation. 42 (2021) 4 - p. , 2021

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

10

Utility of clinical exome sequencing in a complex Emirati p..:

Mahfouz, Nour Abu ; Kizhakkedath, Praseetha ; Ibrahim, Alia...
Computational and Structural Biotechnology Journal. 18 (2020) - p. 1020-1027 , 2020

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

11

Rapid whole genome sequencing of critically ill pediatric p..:

Halabi, Nour ; Ramaswamy, Sathishkumar ; El Naofal, Maha...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9128109/. , 2022

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

12

Genetic and Clinical Characteristics of Patients in the Mid..:

Abuhammour, Walid ; Yavuz, Lemis ; Jain, Ruchi...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9157271/. , 2022

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

13

Utility of clinical exome sequencing in a complex Emirati p..:

Mahfouz, Nour Abu ; Kizhakkedath, Praseetha ; Ibrahim, Alia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200174/. , 2020

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

14

Role of CDKN2C Fluorescence In Situ Hybridization in the Ma..:

El Naofal, Maha ; Kim, Adriel ; Yon, Hui Yi...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057027/. , 2017

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

15

The genomic landscape of rare disorders in the Middle East:

Maha El Naofal ; Sathishkumar Ramaswamy ; Ali Alsarhan...
https://doi.org/10.1186/s13073-023-01157-8. , 2023

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