Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta
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.
Published in American journal of human genetics (12.03.2010)
Published in American journal of human genetics (12.03.2010)
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Clinical course of myeloproliferative leukaemia virus oncogene (MPL) mutation‐associated familial thrombocytosis: a review of 64 paediatric and adult patients
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
Published in British journal of haematology (01.09.2021)
Published in British journal of haematology (01.09.2021)
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Journal Article
Exome sequencing revealed DNA variants in NCOR1, IGF2BP1, SGLT2 and NEK11 as potential novel causes of ketotic hypoglycemia in children
Alhaidan, Yazeid, Larsen, Martin J., Schou, Anders Jørgen, Stenlid, Maria H., Al Balwi, Mohammed A., Christesen, Henrik Thybo, Brusgaard, Klaus
Published in Scientific reports (07.02.2020)
Published in Scientific reports (07.02.2020)
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A novel gene in early childhood diabetes: EDEM2 silencing decreases SLC2A2 and PXD1 expression, leading to impaired insulin secretion
Alhaidan, Yazeid, Christesen, Henrik Thybo, Højlund, Kurt, Al Balwi, Mohammed A., Brusgaard, Klaus
Published in Molecular genetics and genomics : MGG (01.09.2020)
Published in Molecular genetics and genomics : MGG (01.09.2020)
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Journal Article
CRISPR/Cas9 ADCY7 Knockout Stimulates the Insulin Secretion Pathway Leading to Excessive Insulin Secretion
Alhaidan, Yazeid, Christesen, Henrik Thybo, Lundberg, Elena, Balwi, Mohammed A Al, Brusgaard, Klaus
Published in Frontiers in endocrinology (Lausanne) (11.06.2021)
Published in Frontiers in endocrinology (Lausanne) (11.06.2021)
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Peeling of skin as presenting manifestation in congenital disorders of glycosylation
Almutairi, Meshal, Al‐Khenaizan, Sultan, Al Sufiani, Fahd, Al Balwi, Mohammed, Al Mutairi, Fuad
Published in Journal of dermatology (01.09.2020)
Published in Journal of dermatology (01.09.2020)
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Journal Article
Identification of Novel Mutations in Colorectal Cancer Patients Using AmpliSeq Comprehensive Cancer Panel
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, Balwi, Mohammed A. Al, Aziz, Mohammad Azhar
Published in Journal of personalized medicine (09.06.2021)
Published in Journal of personalized medicine (09.06.2021)
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Genome-wide association study of chronic hepatitis B virus infection reveals a novel candidate risk allele on 11q22.3
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
Published in Journal of medical genetics (01.11.2013)
Published in Journal of medical genetics (01.11.2013)
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Journal Article
Isolation and Establishment of a Highly Proliferative, Cancer Stem Cell-Like, and Naturally Immortalized Triple-Negative Breast Cancer Cell Line, KAIMRC2
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
Published in Cells (Basel, Switzerland) (24.05.2021)
Published in Cells (Basel, Switzerland) (24.05.2021)
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Histopathology of Middle East respiratory syndrome coronovirus (MERS‐CoV) infection – clinicopathological and ultrastructural study
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
Published in Histopathology (01.02.2018)
Published in Histopathology (01.02.2018)
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Molecular Diagnosis of Fragile X Syndrome Using Methylation Sensitive Techniques in a Cohort of Patients With Intellectual Disability
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
Published in Pediatric neurology (01.04.2014)
Published in Pediatric neurology (01.04.2014)
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Novel Presentation of Major Histocompatibility Complex Class II Deficiency with Hemophagocytic Lymphohistiocytosis
Alroqi, Fayhan J., Alhezam, Musaab A., Almojali, Abdullah I., Barhoumi, Tlili, Althubaiti, Nouf, Alharbi, Yousef, Al Balwi, Mohammed A., Alrasheed, Abdulrahman
Published in Journal of clinical immunology (01.03.2024)
Published in Journal of clinical immunology (01.03.2024)
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Journal Article
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders
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
Published in American journal of human genetics (03.07.2019)
Published in American journal of human genetics (03.07.2019)
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HCV genotypes among 1013 Saudi nationals: a multicenter study
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
Published in Annals of Saudi medicine (01.01.2013)
Published in Annals of Saudi medicine (01.01.2013)
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Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia
Alfadhel, Majid, Benmeakel, Mohammed, Hossain, Mohammad Arif, Al Mutairi, Fuad, Al Othaim, Ali, Alfares, Ahmed A, Al Balwi, Mohammed, Alzaben, Abdullah, Eyaid, Wafaa
Published in Orphanet journal of rare diseases (15.09.2016)
Published in Orphanet journal of rare diseases (15.09.2016)
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Journal Article
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 Saudi Arabia
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
Published in International journal of cancer (15.12.2013)
Published in International journal of cancer (15.12.2013)
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Risk factors predicting disease severity and mortality in coronavirus disease 2019 Saudi Arabian patients
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
Published in Annals of thoracic medicine (01.04.2023)
Published in Annals of thoracic medicine (01.04.2023)
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