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Showing results (11-20 of 16) with videos related to

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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 familiesQaiser Zaman, Aiman Iftikhar, Gauhar Rehman, 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 DiseasesQaiser Zaman, Muhammad Abbas Khan, Kalsoom Sahar, 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 familiesAngham Abdulrhman Abdulkareem, Qaiser Zaman, Hamza Khan, et al.
European Journal of Human Genetics : EJHG|September 8, 2023
Variants in EFCAB7 underlie nonsyndromic postaxial polydactylyMuhammad Bilal, Hammal Khan, Muhammad Javed Khan, et al.
Ophthalmic Genetics|May 8, 2026
The genetic spectrum of achromatopsia in consanguineous families: insights from Whole exome sequencing across 15 affected individualsSonehra, Qaiser Zaman, Hina Gul, et al.
The Lancet. Infectious Diseases|February 9, 2016
Efficacy and safety of oral solithromycin versus oral moxifloxacin for treatment of community-acquired bacterial pneumonia: a global, double-blind, multicentre, randomised, active-controlled, non-inferiority trial (SOLITAIRE-ORAL)Carlos M Barrera, Analia Mykietiuk, Hristo Metev, et al.
Pageof 2

Showing results (11-20 of 16) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 16 results.
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 familiesQaiser Zaman, Aiman Iftikhar, Gauhar Rehman, 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 DiseasesQaiser Zaman, Muhammad Abbas Khan, Kalsoom Sahar, 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 familiesAngham Abdulrhman Abdulkareem, Qaiser Zaman, Hamza Khan, et al.
European Journal of Human Genetics : EJHG|September 8, 2023
Variants in EFCAB7 underlie nonsyndromic postaxial polydactylyMuhammad Bilal, Hammal Khan, Muhammad Javed Khan, et al.
Ophthalmic Genetics|May 8, 2026
The genetic spectrum of achromatopsia in consanguineous families: insights from Whole exome sequencing across 15 affected individualsSonehra, Qaiser Zaman, Hina Gul, et al.
The Lancet. Infectious Diseases|February 9, 2016
Efficacy and safety of oral solithromycin versus oral moxifloxacin for treatment of community-acquired bacterial pneumonia: a global, double-blind, multicentre, randomised, active-controlled, non-inferiority trial (SOLITAIRE-ORAL)Carlos M Barrera, Analia Mykietiuk, Hristo Metev, et al.
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