Morquio‐B disease: Clinical and genetic characteristics of a distinct GLB1‐related dysostosis multiplex

por Abumansour, Iman S., Yuskiv, Nataliya, Paschke, Eduard, Stockler‐Ipsiroglu, Sylvia
Publicado 2019

Prenatal Diagnosis of Walker–Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalu...

por Abumansour, Iman S., Al Sulmi, Eman, Chodirker, Bernard N., Hunt, Jennifer C.
Publicado 2015

Prenatal‐onset INPPL1‐related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality

por Abumansour, Iman Sabri, Iskandarani, Radiah Mahmoud, Edrees, Alaa, Javed, Farrukh, Taher, Fadwah, Hakeem, Ghaidaa Farouk
Publicado 2021

Phenotypic variability to medication management: an update on fragile X syndrome

por Elhawary, Nasser A., AlJahdali, Imad A., Abumansour, Iman S., Azher, Zohor A., Falemban, Alaa H., Madani, Wefaq M., Alosaimi, Wafaa, Alghamdi, Ghydda, Sindi, Ikhlas A.
Publicado 2023

Genotype-Phenotype Correlation of a Rare Transthyretin Variant Causing Amyloidosis

por Chaudhary, Ammar G., AlReefi, Fadi M., Abou Zahr, Riad G., Elzeftawy, Hossam A., Alghamdi, Saleh S., Bushnag, Areej A., Al-Maghrabi, Jaudah A., Abumansour, Iman S.
Publicado 2022

Genetic etiology and clinical challenges of phenylketonuria

por Elhawary, Nasser A., AlJahdali, Imad A., Abumansour, Iman S., Elhawary, Ezzeldin N., Gaboon, Nagwa, Dandini, Mohammed, Madkhali, Abdulelah, Alosaimi, Wafaa, Alzahrani, Abdulmajeed, Aljohani, Fawzia, Melibary, Ehab M., Kensara, Osama A.
Publicado 2022

Sequence Variants in PSMB8/PSMB9 Immunoproteasome Genes and Risk of Urothelial Bladder Carcinoma

por Elhawary, Nasser A, Ekram, Samar N, Abumansour, Iman S, Azher, Zohor A, AlJahdali, Imad A, Alyamani, Najiah M, Naffadi, Hind M, Sindi, Ikhlas A, Baazeem, Abdulaziz, Nassir, Anmar M, Mufti, Ahmad H
Publicado 2023

Variations in TAP1 and PSMB9 Genes Involved in Antigen Processing and Presentation Increase the Risk of Vitiligo in the Saudi Community

por Mufti, Ahmad H, AlJahdali, Imad A, Elhawary, Nasser A, Ekram, Samar N, Abumansour, Iman, Sindi, Ikhlas A, Naffadi, Hind, Elhawary, Ezzeldin N, Alyamani, Najiah M, Alghamdi, Ghydda, Alosaimi, Wafaa, Rawas, Ghufran, Alharbi, Amaal, Tayeb, Mohammed T
Publicado 2021