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Ramzan, Khushnooda
102  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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