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Genes
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February 25, 2023
A Novel Homozygous Nonsense Variant in the <i>DYM</i> Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family
Abu Bakar, Sulaiman Shams, Nousheen Bibi, et al.
Genes
|
January 21, 2023
Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in <i>HPS3</i> and <i>HPS4</i> Genes
Qaiser Zaman, Sadeeda, Muhammad Anas, et al.
Clinical and Experimental Gastroenterology
|
May 19, 2025
Expert Opinion on the Management, Challenges, and Knowledge Gaps Pertaining to Eosinophilic Esophagitis Among Adults in the Greater Gulf Region
Ahmad Jazzar, Ahmed Al-Darmaki, Evan Samuel Dellon, et al.
The Journal of Gene Medicine
|
April 29, 2023
Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families
Qaiser Zaman, Aiman Iftikhar, Gauhar Rehman, et al.
Frontiers in Genetics
|
June 26, 2023
Whole exome sequencing identified five novel variants in <i>CNTN2</i>, <i>CARS2</i>, <i>ARSA</i>, and <i>CLCN4</i> leading to epilepsy in consanguineous families
Angham Abdulrhman Abdulkareem, Qaiser Zaman, Hamza Khan, et al.
Genes
|
February 25, 2023
Novel Variants in <i>MPV17, PRX, GJB1</i>, and <i>SACS</i> Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases
Qaiser Zaman, Muhammad Abbas Khan, Kalsoom Sahar, et al.
Cureus
|
April 15, 2024
Expert Recommendations on the Diagnosis of Eosinophilic Esophagitis in the United Arab Emirates
Sameer Al Awadhi, Mohamad Miqdady, Mohamed Abuzakouk, et al.
Gene
|
November 13, 2023
Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families
Qaiser Zaman, Jamshid Khan, Mashal Ahmad, et al.
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Search research articles
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Showing results (21-30 of 28) with videos related to
Sort By:
Page
of 3
You have reached the last page of results.
This site can display upto 28 results.
Genes
|
February 25, 2023
A Novel Homozygous Nonsense Variant in the <i>DYM</i> Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family
Abu Bakar, Sulaiman Shams, Nousheen Bibi, et al.
Genes
|
January 21, 2023
Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in <i>HPS3</i> and <i>HPS4</i> Genes
Qaiser Zaman, Sadeeda, Muhammad Anas, et al.
Clinical and Experimental Gastroenterology
|
May 19, 2025
Expert Opinion on the Management, Challenges, and Knowledge Gaps Pertaining to Eosinophilic Esophagitis Among Adults in the Greater Gulf Region
Ahmad Jazzar, Ahmed Al-Darmaki, Evan Samuel Dellon, et al.
The Journal of Gene Medicine
|
April 29, 2023
Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families
Qaiser Zaman, Aiman Iftikhar, Gauhar Rehman, et al.
Frontiers in Genetics
|
June 26, 2023
Whole exome sequencing identified five novel variants in <i>CNTN2</i>, <i>CARS2</i>, <i>ARSA</i>, and <i>CLCN4</i> leading to epilepsy in consanguineous families
Angham Abdulrhman Abdulkareem, Qaiser Zaman, Hamza Khan, et al.
Genes
|
February 25, 2023
Novel Variants in <i>MPV17, PRX, GJB1</i>, and <i>SACS</i> Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases
Qaiser Zaman, Muhammad Abbas Khan, Kalsoom Sahar, et al.
Cureus
|
April 15, 2024
Expert Recommendations on the Diagnosis of Eosinophilic Esophagitis in the United Arab Emirates
Sameer Al Awadhi, Mohamad Miqdady, Mohamed Abuzakouk, et al.
Gene
|
November 13, 2023
Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families
Qaiser Zaman, Jamshid Khan, Mashal Ahmad, et al.
Page
of 3