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Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non-Herlitz junctional epidermolysis bullosa in two paternal half-brothers from Saudi Arabia

Journal Article published 6 Jul 2018 in Congenital Anomalies

Research funded by King Abdulaziz City for Science and Technology

Authors: Hams S. Al-Zahrani, Saeed Al-Tala, Hussein S. A. Mohamoud, Bandar A. Al-Shehri, Saeed Al-Fadhel, Ali Al-Qurashi, Ahmad Al-Bishri, Jumana Y. Al-Aama, Changsoo Kang, Regina C. Betz, Musharraf Jelani

Mutations in the β-globin gene from a Saudi population: an update

Journal Article published 29 Jan 2016 in International Journal of Laboratory Hematology volume 38 issue 2 on pages e38 to e40

Research funded by King Abdulaziz City for Science and Technology | NSTIP (12-MED 2798-46)

Authors: J. F. Borgio, S. AbdulAzeez, Z. A. Naserullah, S. Al-Jarrash, R. A. Al-Ali, M. S. Al-Madan, F. Al-Muhanna, A. M. Al-Suliman, A. Al-Nafie, M. H. Steinberg, A. K. Al-Ali

Molecular Bases ofβ-Thalassemia in the Eastern Province of Saudi Arabia

Journal Article published 2005 in Journal of Biomedicine and Biotechnology volume 2005 issue 4 on pages 322 to 325

Research funded by King Abdulaziz City for Science and Technology

Authors: Amein K. Al-Ali, Suad Al-Ateeq, Burhan W. Imamwerdi, Saleh Al-Sowayan, Mohammed Al-Madan, Fahad Al-Muhanna, Laila Bashaweri, Foad Qaw

Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection

Journal Article published 22 May 2018 in Genes volume 9 issue 5 on page 267

Research funded by King Abdulaziz City for Science and Technology (KACST/NSTIP#14-MED2979-20)

Authors: Abeer Mustafa, Tariq Faquih, Batoul Baz, Rana Kattan, Abdulelah Al-Issa, Asma Tahir, Faiqa Imtiaz, Khushnooda Ramzan, Moeenaldeen Al-Sayed, Mohammed Alowain, Zuhair Al-Hassnan, Hamad Al-Zaidan, Mohamed Abouelhoda, Bashayer Al-Mubarak, Nada Al Tassan

Effect of age and gender in the prevalence of excessive daytime sleepiness among a sample of the Saudi population

Journal Article published Dec 2015 in Journal of Epidemiology and Global Health volume 5 issue 4 on pages S59 to S66

Research funded by King Abdulaziz City for Science and Technology

Authors: Abdulhamid Fatani, Khalid Al-Rouqi, Jamal Al Towairky, Anwar E. Ahmed, Sarah Al-Jahdali, Yosra Ali, Abdullah Al-Shimemeri, Abdullah Al-Harbi, Salim Baharoon, Mohammad Khan, Hamdan Al-Jahdali

Co-inheritance of novel ATRX gene mutation and globin (α & β) gene mutations in transfusion dependent beta-thalassemia patients

Journal Article published Jun 2015 in Blood Cells, Molecules, and Diseases volume 55 issue 1 on pages 27 to 29

Research funded by The Deanship of Scientific Research, University of Dammam (2012186, 2014019) | King Abdulaziz City for Science and Technology (12-MED 2798-46)

Authors: Awatif N. Al-Nafie, J. Francis Borgio, Sayed AbdulAzeez, Ahmed M. Al-Suliman, Fuad S. Qaw, Zaki A. Naserullah, Sana Al-Jarrash, Mohammed S. Al-Madan, Rudaynah A. Al-Ali, Mohammed A. AlKhalifah, Fahad Al-Muhanna, Martin H. Steinberg, Amein K. Al-Ali

Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity

Journal Article published Aug 2017 in Heart Rhythm volume 14 issue 8 on pages 1191 to 1199

Research funded by King Abdulaziz City for Science and Technology

Authors: Zuhair N. Al-Hassnan, Majid Al-Fayyadh, Bander Al-Ghamdi, Azam Shafquat, Yaseen Mallawi, Faten Al-Hadeq, Sahar Tulbah, Zarghuna M.A. Shinwari, Abdulrahman Almesned, Ali Alakhfash, Fadel Al Fadly, Ahmed S. Hersi, Abdullah Alhayani, Amal Al-Hashem, Dia Arafah, Nduna Dzimiri, Brian Meyer, Monther Rababh, Waleed Al-Manea

Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia

Journal Article published 27 Dec 2013 in Clinical Genetics volume 87 issue 1 on pages 74 to 79

Research funded by King Abdulaziz City for Science and Technology (10-BIO-1075-03)

Authors: J.Y. Al-Aama, S. Al-Ghamdi, A.Y. Bdier, A. AlQarawi, O.A. Jiman, N. Al-Aama, J. Al-Aata, A.A.M. Wilde, Z.A. Bhuiyan

HLA class II polymorphism in Saudi patients with multiple sclerosis

Journal Article published 11 Dec 2017 in HLA volume 91 issue 1 on pages 17 to 22

Research funded by King Abdulaziz City for Science and Technology | King Abdullah International Medical Research Centre

Authors: M. Al Jumah, S. Kojan, A. M. Al Shehri, M. Al Balwi, I. Al Abdulkarim, E. M. Masuadi, Y. Alhaidan, A. Alabdulrahman, H. M. Fakhoury, A. H. Hajeer

The significance of sonic hedgehog immunohistochemical expression in colorectal carcinoma

Journal Article published 2015 in Journal of Microscopy and Ultrastructure volume 3 issue 4 on page 169

Research funded by King Abdulaziz City for Science and Technology (11-BIO1524-03)

Authors: Jaudah Al-Maghrabi, Doaa Al Ghamdi, Wafaey Gomaa, Abdulrhman Abulaban, Mahmoud Al-Ahwal, Abdelbaset Buhmeida, Mohammed Al-Qahtani