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 2020

Ichthyosis Prematurity Syndrome: A Rare Form but Easily Recognizable Ichthyosis

por Al-Khenaizan, Sultan, AlSwailem, Asma, AlBalwi, Mohammed Ali
Publicado 2021

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

Prevalence of Associated Endocrine Diseases in Patients with Neurofibromatosis Type 1

por Alshahrani, Aysha, Abuoliat, Zainah, Alshahrani, Awad Saad, Al Balwi, Mohammed Ali
Publicado 2022

Mucolipidosis II: first report from Saudi Arabia

por Alfadhel, Majid, AlShehhi, Wafaa, Alshaalan, Hesham, Al Balwi, Mohammed, Eyaid, Wafaa
Publicado 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 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 2018

Genetic Profile of Epidermolysis Bullosa Cases in King Abdulaziz Medical City, Riyadh, Saudi Arabia

por Alharthi, Raghad, Alnahdi, Muhannad A., Alharthi, Ahad, Almutairi, Seba, Al-Khenaizan, Sultan, AlBalwi, Mohammed A.
Publicado 2022

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 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 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 2020

Age/BMI is a Stronger Predictor of Death in COVID-19 Patients than Age Alone: A Pilot Study

por Al Balwi, Wala, Al Turki, Maha, Memish, Ziad A., Fakhoury, Hana M. A., Al Balwi, Mohammed, Hajeer, Ali H.
Publicado 2022

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 2020

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 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 2016

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 2017

Risk factors predicting disease severity and mortality in coronavirus disease 2019 Saudi Arabian patients

por 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.
Publicado 2023

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 2020