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

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

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

af Al Balwi, Mohammed, Al Ajaji, Sulaiman, Al Abdulkareem, Ibrahim, Hajeer, Ali
Udgivet 2009

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

af Al-Mahdi, Maria, Al Mutair, Angham, Al Balwi, Mohammed, Hussain, Khalid
Udgivet 2010

Mucolipidosis II: first report from Saudi Arabia

af Alfadhel, Majid, AlShehhi, Wafaa, Alshaalan, Hesham, Al Balwi, Mohammed, Eyaid, Wafaa
Udgivet i Ann Saudi Med (2013)

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

af Bawazir, Amen, AlGusheri, Fahad, Jradi, Hoda, AlBalwi, Mohammed, Abdel-Gader, Abdel-Galil
Udgivet i Virol J (2017)

Tetrasomy 18p: case report and review of literature

af Bawazeer, Shahad, Alshalan, Maha, Alkhaldi, Aziza, AlAtwi, Nasser, AlBalwi, Mohammed, Alswaid, Abdulrahman, Alfadhel, Majid
Udgivet i 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

af Abuelgasim, Khadega A., Rehan, Hinna, Alsubaie, Maha, Al Atwi, Nasser, Al Balwi, Mohammed, Alshieban, Saeed, Almughairi, Areej
Udgivet i 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

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

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

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

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

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

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

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

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

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

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

af Alfadhel, Majid, Benmeakel, Mohammed, Hossain, Mohammad Arif, Al Mutairi, Fuad, Al Othaim, Ali, Alfares, Ahmed A., Al Balwi, Mohammed, Alzaben, Abdullah, Eyaid, Wafaa
Udgivet i 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

af 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.
Udgivet 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...

af 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
Udgivet 2013

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

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

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

af 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
Udgivet i J Infect Public Health (2020)

Permissive underfeeding, cytokine profiles and outcomes in critically ill patients

af 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
Udgivet i PLoS One (2019)

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

af 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.
Udgivet i 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

af 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
Udgivet i Cells (2021)