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

بواسطة Almuzzaini, Bader, Alatwi, Nasser S., Alsaif, Saif, Al Balwi, Mohammed A.
الحاوية / القاعدة Mol Genet Genomic Med (2020)

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

بواسطة Al Balwi, Mohammed, Al Ajaji, Sulaiman, Al Abdulkareem, Ibrahim, Hajeer, Ali
منشور في 2009

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

بواسطة Al-Mahdi, Maria, Al Mutair, Angham, Al Balwi, Mohammed, Hussain, Khalid
منشور في 2010

Mucolipidosis II: first report from Saudi Arabia

بواسطة Alfadhel, Majid, AlShehhi, Wafaa, Alshaalan, Hesham, Al Balwi, Mohammed, Eyaid, Wafaa
الحاوية / القاعدة Ann Saudi Med (2013)

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

بواسطة Bawazir, Amen, AlGusheri, Fahad, Jradi, Hoda, AlBalwi, Mohammed, Abdel-Gader, Abdel-Galil
الحاوية / القاعدة Virol J (2017)

Tetrasomy 18p: case report and review of literature

بواسطة Bawazeer, Shahad, Alshalan, Maha, Alkhaldi, Aziza, AlAtwi, Nasser, AlBalwi, Mohammed, Alswaid, Abdulrahman, Alfadhel, Majid
الحاوية / القاعدة 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

بواسطة Abuelgasim, Khadega A., Rehan, Hinna, Alsubaie, Maha, Al Atwi, Nasser, Al Balwi, Mohammed, Alshieban, Saeed, Almughairi, Areej
الحاوية / القاعدة 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

بواسطة Al-Qattan, Mohammad M., Hadadi, Ali, Al-Thunayan, Abdullah M., Eldali, Ahmed A., AlBalwi, Mohammed A.
الحاوية / القاعدة BMC Med Genet (2018)

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

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

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

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

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

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

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

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

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

بواسطة Alfadhel, Majid, Benmeakel, Mohammed, Hossain, Mohammad Arif, Al Mutairi, Fuad, Al Othaim, Ali, Alfares, Ahmed A., Al Balwi, Mohammed, Alzaben, Abdullah, Eyaid, Wafaa
الحاوية / القاعدة 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

بواسطة 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.
منشور في 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...

بواسطة 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
منشور في 2013

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

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

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

بواسطة 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
الحاوية / القاعدة J Infect Public Health (2020)

Permissive underfeeding, cytokine profiles and outcomes in critically ill patients

بواسطة 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
الحاوية / القاعدة PLoS One (2019)

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

بواسطة 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.
الحاوية / القاعدة 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

بواسطة 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
الحاوية / القاعدة Cells (2021)