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Imtiaz, Faiqa
97
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Online (97)
Mediatypes
Articles (Online) (52)
OpenAccess-fulltext (45)
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1
Clinical characteristics and long-term management for patie..:
Alsagheir, Afaf
;
Al-Ashwal, Abdullah
;
Binladen, Amal
...
Frontiers in Endocrinology. 15 (2024) - p. , 2024
Link:
https://doi.org/10.3389/..
?
2
Wild-type S100A3 and S100A13 restore calcium homeostasis an..:
Al-Mutairy, Eid A.
;
Al Qattan, Somaya
;
Khalid, Mohammed
...
Frontiers in Cell and Developmental Biology. 11 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
3
Genetic association analysis of 77,539 genomes reveals rare..:
Greene, Daniel
;
Pirri, Daniela
;
Frudd, Karen
...
Nature Medicine. 29 (2023) 3 - p. 679-688 , 2023
Link:
https://doi.org/10.1038/..
?
4
Missense Variants in GFRA1 and NPNT Are Associated with Con..:
Al-Hamed, Mohamed H.
;
Sayer, John A.
;
Alsahan, Nada
...
Genes. 13 (2022) 10 - p. 1687 , 2022
Link:
https://doi.org/10.3390/..
?
5
Exome sequencing unravels genetic variants associated with ..:
Al‐Hamed, Mohamed H.
;
Hussein, Maged H.
;
Shah, Yaser
...
Human Mutation. 43 (2022) 12 - p. , 2022
Link:
https://doi.org/10.1002/..
?
6
Residual risk for additional recessive diseases in consangu..:
AlAbdi, Lama
;
Alrashseed, Shatha
;
Alsulaiman, Ahood
...
Genetics in Medicine. 23 (2021) 12 - p. 2448-2454 , 2021
Link:
https://doi.org/10.1038/..
?
7
The genotypic and phenotypic spectrum of pycnodysostosis in..:
Mushiba, Aziza M.
;
FAQEIH E A Faqeih, EISSA
;
Saleh, Mohammed A.
...
American Journal of Medical Genetics Part A. 185 (2021) 8 - p. 2455-2463 , 2021
Link:
https://doi.org/10.1002/..
?
8
Clinical variability and outcome of succinyl‐CoA:3‐ketoacid..:
Alghamdi, Malak A.
;
Tohary, Mohammed
;
Alzaidan, Hamad
..
JIMD Reports. 62 (2021) 1 - p. 91-96 , 2021
Link:
https://doi.org/10.1002/..
?
9
25-Hydroxylase vitamin D deficiency in 27 Saudi Arabian sub..:
Bakhamis, Sarah
;
Imtiaz, Faiqa
;
Ramzan, Khushnooda
...
Endocrine Connections. 10 (2021) 7 - p. 767-775 , 2021
Link:
https://doi.org/10.1530/..
?
10
Genetic basis of pulmonary arterial hypertension: a prospec..:
Aldalaan, Abdullah M.
;
Ramzan, Khushnooda
;
Saleemi, Sarfraz A.
...
Pulmonary Circulation. 11 (2021) 3 - p. 1-8 , 2021
Link:
https://doi.org/10.1177/..
?
11
Novel loss of function variants in FRAS1 AND FREM2 underlie..:
Al-Hamed, Mohamed H.
;
Sayer, John A.
;
Alsahan, Nada
...
Journal of Nephrology. 34 (2020) 3 - p. 893-900 , 2020
Link:
https://doi.org/10.1007/..
?
12
Identification of Novel CDH23 Variants Causing Moderate to ..:
Ramzan, Khushnooda
;
Al-Numair, Nouf S.
;
Al-Ageel, Sarah
...
Genes. 11 (2020) 12 - p. 1474 , 2020
Link:
https://doi.org/10.3390/..
?
13
Fetal Anomalies Associated with Novel Pathogenic Variants i..:
Al-Hamed, Mohamed H.
;
Alsahan, Nada
;
Tulbah, Maha
...
Genes. 11 (2020) 9 - p. 967 , 2020
Link:
https://doi.org/10.3390/..
?
14
Genotype–phenotype correlation of 33 patients with maple sy..:
Khalifa, Ola A.
;
Imtiaz, Faiqa
;
Ramzan, Khushnooda
...
American Journal of Medical Genetics Part A. 182 (2020) 11 - p. 2486-2500 , 2020
Link:
https://doi.org/10.1002/..
?
15
Novel pathogenic MAPKBP1 variant in a family with nephronop..:
Al-Hamed, Mohamed H
;
Alzaidan, Hamad
;
Hussein, Maged
...
Clinical Kidney Journal. 14 (2020) 2 - p. 728-730 , 2020
Link:
https://doi.org/10.1093/..
1-15