Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta von Christiansen, Helena E., Schwarze, Ulrike, Pyott, Shawna M., AlSwaid, Abdulrahman, Al Balwi, Mohammed, Alrasheed, Shatha, Pepin, Melanie G., Weis, Mary Ann, Eyre, David R., Byers, Peter H.

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Clinical course of myeloproliferative leukaemia virus oncogene (MPL) mutation‐associated familial thrombocytosis: a review of 64 paediatric and adult patients von Al‐Harbi, Talal, Al‐Zahrani, Mohsen, Al‐Balwi, Mohammed, Al‐Hazmi, Aiman, Alsuhaibani, Ahmed, Aljafn, Nahed, Alsumari, Fatimah, Aleshaiwi, Latefah, Alsuhibani, Alanoud, Alqasim, Ohoud, Ahmad, Naveed

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CRISPR/Cas9 ADCY7 Knockout Stimulates the Insulin Secretion Pathway Leading to Excessive Insulin Secretion von Alhaidan, Yazeid, Christesen, Henrik Thybo, Lundberg, Elena, Al Balwi, Mohammed A., Brusgaard, Klaus

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Exome sequencing revealed DNA variants in NCOR1, IGF2BP1, SGLT2 and NEK11 as potential novel causes of ketotic hypoglycemia in children von Alhaidan, Yazeid, Larsen, Martin J., Schou, Anders Jørgen, Stenlid, Maria H., Al Balwi, Mohammed A., Christesen, Henrik Thybo, Brusgaard, Klaus

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A novel gene in early childhood diabetes: EDEM2 silencing decreases SLC2A2 and PXD1 expression, leading to impaired insulin secretion von Alhaidan, Yazeid, Christesen, Henrik Thybo, Højlund, Kurt, Al Balwi, Mohammed A., Brusgaard, Klaus

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Identification of Novel Mutations in Colorectal Cancer Patients Using AmpliSeq Comprehensive Cancer Panel von Almuzzaini, Bader, Alghamdi, Jahad, Alomani, Alhanouf, AlGhamdi, Saleh, Alsharm, Abdullah A., Alshieban, Saeed, Sayed, Ahood, Alhejaily, Abdulmohsen G., Aljaser, Feda S., Abudawood, Manal, Almajed, Faisal, Samman, Abdulhadi, Al Balwi, Mohammed A., Aziz, Mohammad Azhar

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Peeling of skin as presenting manifestation in congenital disorders of glycosylation von Almutairi, Meshal, Al‐Khenaizan, Sultan, Al Sufiani, Fahd, Al Balwi, Mohammed, Al Mutairi, Fuad

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A novel interstitial deletion of chromosome 2q21.1‐q23.3: Case report and literature review von Almuzzaini, Bader, Alatwi, Nasser S., Alsaif, Saif, Al Balwi, Mohammed A.

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Histopathology of Middle East respiratory syndrome coronovirus (MERS‐CoV) infection – clinicopathological and ultrastructural study von Alsaad, Khaled O, Hajeer, Ali H, Al Balwi, Mohammed, Al Moaiqel, Mohammed, Al Oudah, Nourah, Al Ajlan, Abdulaziz, AlJohani, Sameera, Alsolamy, Sami, Gmati, Giamal E, Balkhy, Hanan, Al‐Jahdali, Hamdan H, Baharoon, Salim A, Arabi, Yaseen M

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Isolation and Establishment of a Highly Proliferative, Cancer Stem Cell-Like, and Naturally Immortalized Triple-Negative Breast Cancer Cell Line, KAIMRC2 von Ali, Rizwan, Al Zahrani, Hajar, Barhoumi, Tlili, Alhallaj, Alshaimaa, Mashhour, Abdullah, Alshammari, Musaad A., Alshawakir, Yasser A., Baz, Omar, Alanazi, Abdullah H., Khan, Abdul Latif, Al Nikhli, Hassan, Al Balwi, Mohammed A., Al Riyees, Lolwah, Boudjelal, Mohamed

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Genome-wide association study of chronic hepatitis B virus infection reveals a novel candidate risk allele on 11q22.3 von Al-Qahtani, Ahmed, Khalak, Hanif G, Alkuraya, Fowzan S, Al-hamoudy, Waleed, Alswat, Khalid, Al Balwi, Mohammed A, Al AbdulKareem, Ibrahim, Sanai, Faisal M, Abdo, Ayman A

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Novel Presentation of Major Histocompatibility Complex Class II Deficiency with Hemophagocytic Lymphohistiocytosis von Alroqi, Fayhan J., Alhezam, Musaab A., Almojali, Abdullah I., Barhoumi, Tlili, Althubaiti, Nouf, Alharbi, Yousef, Al Balwi, Mohammed A., Alrasheed, Abdulrahman

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Prevalence of mixed hepatitis C virus (HCV) genotypes among recently diagnosed dialysis patients with HCV infection von Al Balwi, Mohammed A

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De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders von Dulovic-Mahlow, Marija, Trinh, Joanne, Kandaswamy, Krishna Kumar, Braathen, Geir Julius, Di Donato, Nataliya, Rahikkala, Elisa, Beblo, Skadi, Werber, Martin, Krajka, Victor, Busk, Øyvind L., Baumann, Hauke, Al-Sannaa, Nouriya Abbas, Hinrichs, Frauke, Affan, Rabea, Navot, Nir, Al Balwi, Mohammed A., Oprea, Gabriela, Holla, Øystein L., Weiss, Maximilian E.R., Jamra, Rami A., Kahlert, Anne-Karin, Kishore, Shivendra, Tveten, Kristian, Vos, Melissa, Rolfs, Arndt, Lohmann, Katja

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Molecular Diagnosis of Fragile X Syndrome Using Methylation Sensitive Techniques in a Cohort of Patients With Intellectual Disability von Chaudhary, Adeel G., PhD, Hussein, Ibtessam R., MD PhD, Abuzenadah, Adel, PhD, Gari, Mamdouh, PhD, Bassiouni, Randa, MD, PhD, Sogaty, Samira, MBBCh, Lary, Sahira, PhD, Al-Quaiti, Maha, MSc, Al Balwi, Mohammed, PhD, Al Qahtani, Mohammed, PhD

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Risk factors predicting disease severity and mortality in coronavirus disease 2019 Saudi Arabian patients von Al Balwi, Wala M, AlGhamdi, Nouf, Alshahrani, Reem, Abdelrahman, Ihssan H, Mahmoud, Sami, Al-Hamad, Ali, Al Hamzah, Salma, Al Jraid, Fahad, Al Turki, Maha, Al Balwi, Mohammed A

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Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia von Alfadhel, Majid, Benmeakel, Mohammed, Hossain, Mohammad Arif, Al Mutairi, Fuad, Al Othaim, Ali, Alfares, Ahmed A, Al Balwi, Mohammed, Alzaben, Abdullah, Eyaid, Wafaa

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Late-onset multiple venous malformations confined to the upper limb: link to somatic MAP3K3 mutations von Al-Qattan, Mohammed M., Al-Balwi, Mohammed A., Al-Zayed, Ebtehal M., Al-Sohaibani, Mohammed, Gelidan, Adnan G., Alsheiban, Saeed

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Novel point mutations and mutational complexes in the enhancer II, core promoter and precore regions of hepatitis B virus genotype D1 associated with hepatocellular carcinoma in Sa... von Khan, Anis, Al Balwi, Mohammed A., Tanaka, Yasuhito, Hajeer, Ali, Sanai, Faisal M., Al Abdulkarim, Ibrahim, Al Ayyar, Latifah, Badri, Motasim, Saudi, Dib, Tamimi, Waleed, Mizokami, Masashi, Al Knawy, Bandar

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HCV genotypes among 1013 Saudi nationals: a multicenter study von Al Traif, Ibrahim, Al Balwi, Mohammed A, Abdulkarim, Ibrahim, Handoo, Fayaz A, Alqhamdi, Hamdan Saleh, Alotaibi, Melfi, Aljumah, Abdulrahman, Al Ashqar, Hamad Ibrahim, Bzeizi, Khalid, Al Quaiz, Mohammed, Alalwan, Abduljaleel, Al Hamoudi, Waleed, Sanai, Faisal, Abdo, Ayman

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