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

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

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

por Al Balwi, Mohammed, Al Ajaji, Sulaiman, Al Abdulkareem, Ibrahim, Hajeer, Ali
Publicado 2009

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

por Al-Mahdi, Maria, Al Mutair, Angham, Al Balwi, Mohammed, Hussain, Khalid
Publicado 2010

Mucolipidosis II: first report from Saudi Arabia

por Alfadhel, Majid, AlShehhi, Wafaa, Alshaalan, Hesham, Al Balwi, Mohammed, Eyaid, Wafaa
Publicado en Ann Saudi Med (2013)

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

por Bawazir, Amen, AlGusheri, Fahad, Jradi, Hoda, AlBalwi, Mohammed, Abdel-Gader, Abdel-Galil
Publicado en Virol J (2017)

Tetrasomy 18p: case report and review of literature

por Bawazeer, Shahad, Alshalan, Maha, Alkhaldi, Aziza, AlAtwi, Nasser, AlBalwi, Mohammed, Alswaid, Abdulrahman, Alfadhel, Majid
Publicado en 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

por Abuelgasim, Khadega A., Rehan, Hinna, Alsubaie, Maha, Al Atwi, Nasser, Al Balwi, Mohammed, Alshieban, Saeed, Almughairi, Areej
Publicado en 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

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

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

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

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

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

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

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

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

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

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

por Alfadhel, Majid, Benmeakel, Mohammed, Hossain, Mohammad Arif, Al Mutairi, Fuad, Al Othaim, Ali, Alfares, Ahmed A., Al Balwi, Mohammed, Alzaben, Abdullah, Eyaid, Wafaa
Publicado en 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

por 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.
Publicado 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...

por 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
Publicado 2013

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

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

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

por 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
Publicado en J Infect Public Health (2020)

Permissive underfeeding, cytokine profiles and outcomes in critically ill patients

por 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
Publicado en PLoS One (2019)

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

por 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.
Publicado en Front Cell Dev Biol (2020)

Efficacy and safety of treatment of hepatitis C virus infection in renal transplant recipients

por Aljumah, Abdulrahman A, Saeed, Mohamed A, Al Flaiw, Ahmed I, Al Traif, Ibrahim H, Al Alwan, Abduljaleel M, Al Qurashi, Salem H, Al Ghamdi, Ghormallah A, Al Hejaili, Fayez F, Al Balwi, Mohammed A, Al Sayyari, Abdulla A
Publicado 2012