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Ramzan, Khushnooda
102
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Online (102)
Mediatypes
Articles (Online) (56)
OpenAccess-fulltext (46)
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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/..
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2
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/..
?
3
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/..
?
4
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/..
?
5
Integrated Genomic Analysis Identifies ANKRD36 Gene as a No..:
Iqbal, Zafar
;
Absar, Muhammad
;
Akhtar, Tanveer
...
Biology. 10 (2021) 11 - p. 1182 , 2021
Link:
https://doi.org/10.3390/..
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6
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/..
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7
Features and behavior of valvular abnormalities in adolesce..:
Galzerano, Domenico
;
Saba, Seemi
;
Al Sergani, Abdullah
...
Monaldi Archives for Chest Disease. , 2021
Link:
https://doi.org/10.4081/..
?
8
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/..
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9
A novel homozygous frameshift variant in the C3orf52 gene u..:
Shah, Khadim
;
Basit, Sulman
;
Ali, Ghazanfar
...
European Journal of Dermatology. 31 (2021) 3 - p. 409-411 , 2021
Link:
https://doi.org/10.1684/..
?
10
A novel frameshift mutation in the ITGB3 gene leading to Gl..:
Alharbi, Asma
;
Hashmi, Jamil A.
;
Alharby, Essa
...
Hematology/Oncology and Stem Cell Therapy. , 2021
Link:
https://doi.org/10.1016/..
?
11
Detection of a Recurrent TMEM38B Gene DeletionAssociated wi..:
Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
;
Ramzan, Khushnooda
;
Alotaibi, Maha
...
Discoveries. 9 (2021) 1 - p. e124 , 2021
Link:
https://doi.org/10.15190..
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12
Missense Mutations in theCTSCGene in Saudi Families Segrega..:
Albalawi, Alia M.
;
Hashmi, Jamil A.
;
Alfadhli, Fatima
...
Annals of Dermatology. 32 (2020) 1 - p. 77 , 2020
Link:
https://doi.org/10.5021/..
?
13
A homozygous missense variant in the homeobox domain of the..:
Almatrafi, Ahmad
;
Umair, Muhammad
;
Eldardear, Amr
...
The Journal of Gene Medicine. 22 (2020) 8 - p. , 2020
Link:
https://doi.org/10.1002/..
?
14
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/..
?
15
Further Evidence of a Recessive Variant in COL1A1 as an Und..:
Almatrafi, Ahmad
;
Hashmi, Jamil A.
;
Fadhli, Fatima
...
Global Medical Genetics. 7 (2020) 4 - p. 109-112 , 2020
Link:
https://doi.org/10.1055/..
1-15