Supplementary testing after negative or inconclusive exome sequencing results Balsam AlMaarik, Taghrid Aloraini, Roselyn Paclejan, Mohammed Balwi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed A. Alfares JBCGenetics. 2023; 6(1): 1-13 » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1659513785
Erythropoietin resistance in patients with regular hemodialysis in Sohag university hospital Nagwa S. Ahmed, Aida A Mahmoud, Nayel Abd Elhamed Zaki, Amera A. Genedy JBCGenetics. 2023; 6(1): 14-21 » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1670609060
Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene Anam Nayab, Shagufta Andleeb, Shah Zeb, Hafiza Yasmin Manzoor, Zamrud Zehri, Arif Mahmood, Hammal Khan, Muhammad Umair, Ahmed Waqas JBCGenetics. 2023; 6(1): 22-28 » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1673224261
A biallelic variant in IQCE predisposed to cause non-syndromic post-axial polydactyly type A Muhammad Bilal, Muhammad Raheel, Gul Hassan, Shah Zeb, Arif Mahmood, Zamrud Zehri, Hafiza Yasmin Manzoor, Muhammad Umair JBCGenetics. 2023; 6(1): 29-35 » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1673499250
Opinion of geneticist regarding performing preimplantation genetic testing for monogenic disorder for variants of unknown significance Reema Alduaiji, Laila Alqahtani, Reema Alqadiri, Lena Alotaibi, Mostafa abolfotouh, Majid Alfadhel JBCGenetics. 2023; 6(1): 36-40 » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1676870604
Review Article
The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi JBCGenetics. 2023; 6(1): 41-56 » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1664963756
Dilated cardiomyopathy associated with NRAP gene: a case series Abdellh A. Names, Mohammed A. Tohary, Basel A. Hadad, Abdurahman H. Alhazmi, Hamad M. Alaksham, Hassan M. Gohal, Ghadah M. Gosadi, Ali A. Awaji, Mohammad A. Jareebi JBCGenetics. 2023; 6(1): 70-74 » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1668575222
