CRISPR/Cas9 ADCY7 Knockout Stimulates the Insulin Secretion Pathway Leading to Excessive Insulin Secretion von Alhaidan, Yazeid, Christesen, Henrik Thybo, Lundberg, Elena, Balwi, Mohammed A Al, Brusgaard, Klaus

Volltext

Identification of Novel Mutations in Colorectal Cancer Patients Using AmpliSeq Comprehensive Cancer Panel von Almuzzaini, Bader, Alghamdi, Jahad, Alomani, Alhanouf, AlGhamdi, Saleh, Alsharm, Abdullah A., Alshieban, Saeed, Sayed, Ahood, Alhejaily, Abdulmohsen G., Aljaser, Feda S., Abudawood, Manal, Almajed, Faisal, Samman, Abdulhadi, Balwi, Mohammed A. Al, Aziz, Mohammad Azhar

Volltext

A novel interstitial deletion of chromosome 2q21.1‐q23.3: Case report and literature review von Almuzzaini, Bader, Alatwi, Nasser S., Alsaif, Saif, Al Balwi, Mohammed A.

Volltext

Exome sequencing revealed DNA variants in NCOR1, IGF2BP1, SGLT2 and NEK11 as potential novel causes of ketotic hypoglycemia in children von Alhaidan, Yazeid, Larsen, Martin J., Schou, Anders Jørgen, Stenlid, Maria H., Al Balwi, Mohammed A., Christesen, Henrik Thybo, Brusgaard, Klaus

Volltext

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

Volltext

A novel gene in early childhood diabetes: EDEM2 silencing decreases SLC2A2 and PXD1 expression, leading to impaired insulin secretion von Alhaidan, Yazeid, Christesen, Henrik Thybo, Højlund, Kurt, Al Balwi, Mohammed A., Brusgaard, Klaus

Volltext

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

Volltext

Genome-wide association study of chronic hepatitis B virus infection reveals a novel candidate risk allele on 11q22.3 von Al-Qahtani, Ahmed, Khalak, Hanif G, Alkuraya, Fowzan S, Al-hamoudy, Waleed, Alswat, Khalid, Al Balwi, Mohammed A, Al AbdulKareem, Ibrahim, Sanai, Faisal M, Abdo, Ayman A

Volltext

Novel Presentation of Major Histocompatibility Complex Class II Deficiency with Hemophagocytic Lymphohistiocytosis von Alroqi, Fayhan J., Alhezam, Musaab A., Almojali, Abdullah I., Barhoumi, Tlili, Althubaiti, Nouf, Alharbi, Yousef, Al Balwi, Mohammed A., Alrasheed, Abdulrahman

Volltext

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders von Dulovic-Mahlow, Marija, Trinh, Joanne, Kandaswamy, Krishna Kumar, Braathen, Geir Julius, Di Donato, Nataliya, Rahikkala, Elisa, Beblo, Skadi, Werber, Martin, Krajka, Victor, Busk, Øyvind L., Baumann, Hauke, Al-Sannaa, Nouriya Abbas, Hinrichs, Frauke, Affan, Rabea, Navot, Nir, Al Balwi, Mohammed A., Oprea, Gabriela, Holla, Øystein L., Weiss, Maximilian E.R., Jamra, Rami A., Kahlert, Anne-Karin, Kishore, Shivendra, Tveten, Kristian, Vos, Melissa, Rolfs, Arndt, Lohmann, Katja

Volltext

Prevalence of mixed hepatitis C virus (HCV) genotypes among recently diagnosed dialysis patients with HCV infection von Al Balwi, Mohammed A

Volltext

HCV genotypes among 1013 Saudi nationals: a multicenter study von Al Traif, Ibrahim, Al Balwi, Mohammed A, Abdulkarim, Ibrahim, Handoo, Fayaz A, Alqhamdi, Hamdan Saleh, Alotaibi, Melfi, Aljumah, Abdulrahman, Al Ashqar, Hamad Ibrahim, Bzeizi, Khalid, Al Quaiz, Mohammed, Alalwan, Abduljaleel, Al Hamoudi, Waleed, Sanai, Faisal, Abdo, Ayman

Volltext

Late-onset multiple venous malformations confined to the upper limb: link to somatic MAP3K3 mutations von Al-Qattan, Mohammed M., Al-Balwi, Mohammed A., Al-Zayed, Ebtehal M., Al-Sohaibani, Mohammed, Gelidan, Adnan G., Alsheiban, Saeed

Volltext

Novel point mutations and mutational complexes in the enhancer II, core promoter and precore regions of hepatitis B virus genotype D1 associated with hepatocellular carcinoma in Sa... von Khan, Anis, Al Balwi, Mohammed A., Tanaka, Yasuhito, Hajeer, Ali, Sanai, Faisal M., Al Abdulkarim, Ibrahim, Al Ayyar, Latifah, Badri, Motasim, Saudi, Dib, Tamimi, Waleed, Mizokami, Masashi, Al Knawy, Bandar

Volltext

The unclassified variant: c.2044AD>G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype von Al-Qattan, Mohammad M., Al Balwi, Mohammed A.

Volltext

Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C von Al-Qattan, Mohammad M., Al-Motairi, Muhammed I., Al Balwi, Mohammed A.

Volltext

Analysis of CCR5 gene polymorphisms in 321 healthy Saudis using next generation sequencing von AlBalwi, Mohammed A, Hadadi, Ali I, Alharbi, Wardah, Ballow, Mariam, AlAsiri, Abdulrahman, AlAbdulrahman, Abdulkareem, G.K., Udayaraja, Aldrees, Mohammed, AlAbdulkareem, Ibrahim, Hajeer, Ali H

Volltext

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

Volltext

139-P von Hajeer, Ali H, Al Balwi, Mohammed A, Uyar, Aytül F, Al Jumah, Mohammed A

Volltext

Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia von Tesson, Christelle, Nawara, Magdalena, Salih, Mustafa A.M., Rossignol, Rodrigue, Zaki, Maha S., Al Balwi, Mohammed, Schule, Rebecca, Mignot, Cyril, Obre, Emilie, Bouhouche, Ahmed, Santorelli, Filippo M., Durand, Christelle M., Oteyza, Andrés Caballero, El-Hachimi, Khalid H., Al Drees, Abdulmajeed, Bouslam, Naima, Lamari, Foudil, Elmalik, Salah A., Kabiraj, Mohammad M., Seidahmed, Mohammed Z., Esteves, Typhaine, Gaussen, Marion, Monin, Marie-Lorraine, Gyapay, Gabor, Lechner, Doris, Gonzalez, Michael, Depienne, Christel, Mochel, Fanny, Lavie, Julie, Schols, Ludger, Lacombe, Didier, Yahyaoui, Mohamed, Al Abdulkareem, Ibrahim, Zuchner, Stephan, Yamashita, Atsushi, Benomar, Ali, Goizet, Cyril, Durr, Alexandra, Gleeson, Joseph G., Darios, Frederic, Brice, Alexis, Stevanin, Giovanni

Volltext