A novel interstitial deletion of chromosome 2q21.1‐q23.3: Case report and literature review

Tekijä Almuzzaini, Bader, Alatwi, Nasser S., Alsaif, Saif, Al Balwi, Mohammed A.
Julkaisussa Mol Genet Genomic Med (2020)

Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn’s syndrome: a case report

Tekijä Al Balwi, Mohammed, Al Ajaji, Sulaiman, Al Abdulkareem, Ibrahim, Hajeer, Ali
Julkaistu 2009

Successful transfer from insulin to oral sulfonylurea in a 3-year-old girl with a mutation in the KCNJ11 gene

Tekijä Al-Mahdi, Maria, Al Mutair, Angham, Al Balwi, Mohammed, Hussain, Khalid
Julkaistu 2010

Mucolipidosis II: first report from Saudi Arabia

Tekijä Alfadhel, Majid, AlShehhi, Wafaa, Alshaalan, Hesham, Al Balwi, Mohammed, Eyaid, Wafaa
Julkaisussa Ann Saudi Med (2013)

Hepatitis C virus genotypes in Saudi Arabia: a future prediction and laboratory profile

Tekijä Bawazir, Amen, AlGusheri, Fahad, Jradi, Hoda, AlBalwi, Mohammed, Abdel-Gader, Abdel-Galil
Julkaisussa Virol J (2017)

Tetrasomy 18p: case report and review of literature

Tekijä Bawazeer, Shahad, Alshalan, Maha, Alkhaldi, Aziza, AlAtwi, Nasser, AlBalwi, Mohammed, Alswaid, Abdulrahman, Alfadhel, Majid
Julkaisussa Appl Clin Genet (2018)

Coexistence of chronic myeloid leukemia and diffuse large B-cell lymphoma with antecedent chronic lymphocytic leukemia: a case report and review of the literature

Tekijä Abuelgasim, Khadega A., Rehan, Hinna, Alsubaie, Maha, Al Atwi, Nasser, Al Balwi, Mohammed, Alshieban, Saeed, Almughairi, Areej
Julkaisussa J Med Case Rep (2018)

Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G

Tekijä Al-Qattan, Mohammad M., Hadadi, Ali, Al-Thunayan, Abdullah M., Eldali, Ahmed A., AlBalwi, Mohammed A.
Julkaisussa BMC Med Genet (2018)

The effect of the VKORC1 promoter variant on warfarin responsiveness in the Saudi WArfarin Pharmacogenetic (SWAP) cohort

Tekijä Al Ammari, Maha, AlBalwi, Mohammed, Sultana, Khizra, Alabdulkareem, Ibrahim B., Almuzzaini, Bader, Almakhlafi, Nada S., Aldrees, Mohammed, Alghamdi, Jahad
Julkaisussa Sci Rep (2020)

Exome sequencing revealed DNA variants in NCOR1, IGF2BP1, SGLT2 and NEK11 as potential novel causes of ketotic hypoglycemia in children

Tekijä Alhaidan, Yazeid, Larsen, Martin J., Schou, Anders Jørgen, Stenlid, Maria H., Al Balwi, Mohammed A., Christesen, Henrik Thybo, Brusgaard, Klaus
Julkaisussa Sci Rep (2020)

The genetic basis of a craniofacial disease provides insight into COPII coat assembly

Tekijä Fromme, J. Christopher, Ravazzola, Mariella, Hamamoto, Susan, Al-Balwi, Mohammed, Eyaid, Wafaa, Boyadjiev, Simeon A., Cosson, Pierre, Schekman, Randy, Orci, Lelio
Julkaistu 2007

Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer

Tekijä Abulkhair, Omalkhair, Al Balwi, Mohammed, Makram, Ola, Alsubaie, Lamia, Faris, Medhat, Shehata, Hussam, Hashim, Ahmed, Arun, Banu, Saadeddin, Ahmed, Ibrahim, Ezzeldin
Julkaisussa J Glob Oncol (2018)

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia

Tekijä Alfadhel, Majid, Benmeakel, Mohammed, Hossain, Mohammad Arif, Al Mutairi, Fuad, Al Othaim, Ali, Alfares, Ahmed A., Al Balwi, Mohammed, Alzaben, Abdullah, Eyaid, Wafaa
Julkaisussa Orphanet J Rare Dis (2016)

Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

Tekijä 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.
Julkaistu 2010

Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findi...

Tekijä Alfadhel, Majid, Almuntashri, Makki, Jadah, Raafat H, Bashiri, Fahad A, Al Rifai, Muhammad Talal, Al Shalaan, Hisham, Al Balwi, Mohammed, Al Rumayan, Ahmed, Eyaid, Wafaa, Al-Twaijri, Waleed
Julkaistu 2013

Screening for glucose-6-phosphate dehydrogenase deficiency in neonates: a comparison between cord and peripheral blood samples

Tekijä AlSaif, Saif, Ponferrada, Ma. Bella, AlKhairy, Khalid, AlTawil, Khalil, Sallam, Adel, Ahmed, Ibrahim, Khawaji, Mohammed, AlHathlol, Khalid, Baylon, Beverly, AlSuhaibani, Ahmed, AlBalwi, Mohammed
Julkaisussa BMC Pediatr (2017)

Evolving sequence mutations in the Middle East Respiratory Syndrome Coronavirus (MERS-CoV)

Tekijä AlBalwi, Mohammed Ali, Khan, Anis, AlDrees, Mohammed, GK, Udayaraja, Manie, Balavenkatesh, Arabi, Yaseen, Alabdulkareem, Ibrahim, AlJohani, Sameera, Alghoribi, Majed, AlAskar, Ahmed, AlAjlan, Abdulaziz, Hajeer, Ali
Julkaisussa J Infect Public Health (2020)

Permissive underfeeding, cytokine profiles and outcomes in critically ill patients

Tekijä Arabi, Yaseen, Jawdat, Dunia, Bouchama, Abderrezak, Tamim, Hani, Tamimi, Waleed, Al-Balwi, Mohammed, Al-Dorzi, Hasan M., Sadat, Musharaf, Afesh, Lara, Abdullah, Mashan L., Mashaqbeh, Walid, Sakhija, Maram, Hussein, Mohamed A., ElObeid, Adila, Al-Dawood, Abdulaziz
Julkaisussa PLoS One (2019)

Proteomic and Molecular Assessment of the Common Saudi Variant in ACADVL Gene Through Mesenchymal Stem Cells

Tekijä Alfares, Ahmad, Alfadhel, Majid, Mujamammi, Ahmed, Alotaibi, Batoul, Albahkali, Sarah, Al Balwi, Mohammed, Benabdelkamel, Hicham, Masood, Afshan, Ali, Rizwan, Almuaysib, Amani, Al Mahri, Saeed, Mohammad, Sameer, Alanazi, Ibrahim O., Alfadda, Assim, AlGhamdi, Saleh, Alrfaei, Bahauddeen M.
Julkaisussa Front Cell Dev Biol (2020)

Isolation and Establishment of a Highly Proliferative, Cancer Stem Cell-Like, and Naturally Immortalized Triple-Negative Breast Cancer Cell Line, KAIMRC2

Tekijä 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
Julkaisussa Cells (2021)