Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family

av Al-Hamed, Mohamed H., Kurdi, Wesam, Alsahan, Nada, Ambosaidi, Qaamariya, Tulbah, Maha, Sayer, John A.
I publikationen Clin Kidney J (2016)

Novel pathogenic MAPKBP1 variant in a family with nephronophthisis

av Al-Hamed, Mohamed H, Alzaidan, Hamad, Hussein, Maged, Albaik, Lina, Qari, Alya, Sayer, John A, Imtiaz, Faiqa
I publikationen Clin Kidney J (2020)

Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94

av Al-Hamed, Mohamed H., Alsahan, Nada, Tulbah, Maha, Kurdi, Wesam, Ali, Wafa’a I., Sayer, John A., Imtiaz, Faiqa
I publikationen Genes (Basel) (2020)

Functional modelling of a novel mutation in BBS5

av Al-Hamed, Mohamed H, van Lennep, Charles, Hynes, Ann Marie, Chrystal, Paul, Eley, Lorraine, Al-Fadhly, Fatimah, El Sayed, Riham, Simms, Roslyn J, Meyer, Brian, Sayer, John A
Publicerad 2014

Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia

av Al-Hamed, Mohamed H., Imtiaz, Faiqa, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Alamoudi, Mohamed S., Faqeih, Eissa, Alfadhel, Majid, Al-Asmari, Ali, Saleh, M.M., Almutairi, Fuad, Moghrabi, Nabil, AlSayed, Moeenaldeen
I publikationen Mol Genet Metab Rep (2019)

Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease

av Imtiaz, Faiqa, Al-Mostafa, Abeer, Allam, Rabab, Ramzan, Khushnooda, Al-Tassan, Nada, Tahir, Asma I., Al-Numair, Nouf S., Al-Hamed, Mohamed H., Al-Hassnan, Zuhair, Al-Owain, Mohammad, Al-Zaidan, Hamad, Al-Amoudi, Mohammad, Qari, Alya, Balobaid, Ameera, Al-Sayed, Moeenaldeen
I publikationen Mol Genet Metab Rep (2017)

Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans

av Alzahrani, Fatema, Kuwahara, Hiroyuki, Long, Yongkang, Al-Owain, Mohammed, Tohary, Mohamed, AlSayed, Moeenaldeen, Mahnashi, Mohammed, Fathi, Lana, Alnemer, Maha, Al-Hamed, Mohamed H., Lemire, Gabrielle, Boycott, Kym M., Hashem, Mais, Han, Wenkai, Al-Maawali, Almundher, Al Mahrizi, Feisal, Al-Thihli, Khalid, Gao, Xin, Alkuraya, Fowzan S.
I publikationen Am J Hum Genet (2020)

Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel

av Al-Hamed, Mohamed H, Kurdi, Wesam, Alsahan, Nada, Alabdullah, Zainab, Abudraz, Rania, Tulbah, Maha, Alnemer, Maha, Khan, Rubina, Al-Jurayb, Haya, Alahmed, Ahmed, Tahir, Asma I, Khalil, Dania, Edwards, Noel, Al Abdulaziz, Basma, Binhumaid, Faisal S, Majid, Salma, Faquih, Tariq, El-Kalioby, Mohamed, Abouelhoda, Mohamed, Altassan, Nada, Monies, Dorota, Meyer, Brian, Sayer, John A, Albaqumi, Mamdouh
I publikationen J Med Genet (2016)

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ(10) biosynthesis disruption

av Ashraf, Shazia, Gee, Heon Yung, Woerner, Stephanie, Xie, Letian X., Vega-Warner, Virginia, Lovric, Svjetlana, Fang, Humphrey, Song, Xuewen, Cattran, Daniel C., Avila-Casado, Carmen, Paterson, Andrew D., Nitschké, Patrick, Bole-Feysot, Christine, Cochat, Pierre, Esteve-Rudd, Julian, Haberberger, Birgit, Allen, Susan J., Zhou, Weibin, Airik, Rannar, Otto, Edgar A., Barua, Moumita, Al-Hamed, Mohamed H., Kari, Jameela A., Evans, Jonathan, Bierzynska, Agnieszka, Saleem, Moin A., Böckenhauer, Detlef, Kleta, Robert, El Desoky, Sherif, Hacihamdioglu, Duygu O., Gok, Faysal, Washburn, Joseph, Wiggins, Roger C., Choi, Murim, Lifton, Richard P., Levy, Shawn, Han, Zhe, Salviati, Leonardo, Prokisch, Holger, Williams, David S., Pollak, Martin, Clarke, Catherine F., Pei, York, Antignac, Corinne, Hildebrandt, Friedhelm
Publicerad 2013