Bilaketaren emaitzak - Eyaid, Wafaa

Drug treatment of inborn errors of metabolism: a systematic review nork Alfadhel, Majid, Al-Thihli, Khalid, Moubayed, Hiba, Eyaid, Wafaa, Al-Jeraisy, Majed

Testu osoa Testu osoa Testu osoa

Mucolipidosis II: first report from Saudi Arabia nork Alfadhel, Majid, AlShehhi, Wafaa, Alshaalan, Hesham, Al Balwi, Mohammed, Eyaid, Wafaa

Testu osoa Testu osoa Testu osoa

A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family nork Sheereen, Atia, Alaamery, Manal, Bawazeer, Shahad, Al Yafee, Yusra, Massadeh, Salam, Eyaid, Wafaa

Testu osoa Testu osoa Testu osoa

Identification and Functional Analysis of a Defect in the Human ALG9 Gene: Definition of Congenital Disorder of Glycosylation Type IL nork Frank, Christian G., Grubenmann, Claudia E., Eyaid, Wafaa, Berger, Eric G., Aebi, Markus, Hennet, Thierry

Testu osoa Testu osoa

Pulmonary Manifestations in a Patient with Transaldolase Deficiency nork Jassim, Nada, AlGhaihab, Mohammed, Saleh, Suhail Al, Alfadhel, Majid, Wamelink, Mirjam M. C., Eyaid, Wafaa

Testu osoa Testu osoa Testu osoa

PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly nork Khan, Amjad, Alaamery, Manal, Massadeh, Salam, Obaid, Abdulrahman, Kashgari, Amna A., Walsh, Christopher A., Eyaid, Wafaa

Testu osoa Testu osoa Testu osoa

X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report nork Malik, Amna, Amer, Ahmed Bait, Salama, Mohammed, Haddad, Bander, Alrifai, Muhammad T., Balwi, Mohammed Al, Davies, William, Eyaid, Wafaa

Testu osoa Testu osoa Testu osoa

Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula nork Hossain, Mohammad Arif, Obaid, Abdulrahman, Rifai, Mohammad, Alem, Hala, Hazwani, Tarek, Al Shehri, Ali, Alfadhel, Majid, Eto, Yoshikatsu, Eyaid, Wafaa

Testu osoa Testu osoa Testu osoa

The genetic basis of a craniofacial disease provides insight into COPII coat assembly nork Fromme, J. Christopher, Ravazzola, Mariella, Hamamoto, Susan, Al-Balwi, Mohammed, Eyaid, Wafaa, Boyadjiev, Simeon A., Cosson, Pierre, Schekman, Randy, Orci, Lelio

Testu osoa Testu osoa Testu osoa

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia nork Alfadhel, Majid, Benmeakel, Mohammed, Hossain, Mohammad Arif, Al Mutairi, Fuad, Al Othaim, Ali, Alfares, Ahmed A., Al Balwi, Mohammed, Alzaben, Abdullah, Eyaid, Wafaa

Testu osoa Testu osoa Testu osoa

Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency nork Obaid, Abdulrahman, Nashabat, Marwan, Alfadhel, Majid, Alasmari, Ali, Al Mutairi, Fuad, Alswaid, Abdulrahman, Faqeih, Eissa, Mushiba, Aziza, Albanyan, Marwah, Alalwan, Maryam, Marsden, Deborah, Eyaid, Wafaa

Testu osoa Testu osoa Testu osoa

HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients nork Alfadhel, Majid, Abadel, Basma, Almaghthawi, Hind, Umair, Muhammad, Rahbeeni, Zuhair, Faqeih, Eissa, Almannai, Mohammed, Alasmari, Ali, Saleh, Mohammed, Eyaid, Wafaa, Alfares, Ahmed, Al Mutairi, Fuad

Testu osoa Testu osoa Testu osoa

Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism nork Alfadhel, Majid, Alrifai, Muhammad Talal, Trujillano, Daniel, Alshaalan, Hesham, Al Othaim, Ali, Al Rasheed, Shatha, Assiri, Hussam, Alqahtani, Abdulrhman A., Alaamery, Manal, Rolfs, Arndt, Eyaid, Wafaa

Testu osoa Testu osoa Testu osoa

Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findi... nork 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

Testu osoa Testu osoa Testu osoa

A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients nork Musa, Sara, Eyaid, Wafaa, Kamer, Kimberli, Ali, Rehab, Al-Mureikhi, Mariam, Shahbeck, Noora, Al Mesaifri, Fatma, Makhseed, Nawal, Mohamed, Zakkiriah, AlShehhi, Wafaa Ali, Mootha, Vamsi K., Juusola, Jane, Ben-Omran, Tawfeg

Testu osoa Testu osoa Testu osoa

Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized control... nork Nashabat, Marwan, Obaid, Abdulrahman, Al Mutairi, Fuad, Saleh, Mohammed, Elamin, Mohammed, Ahmed, Hind, Ababneh, Faroug, Eyaid, Wafaa, Alswaid, Abdulrahman, Alohali, Lina, Faqeih, Eissa, Aljeraisy, Majed, Hussein, Mohamed A., Alasmari, Ali, Alfadhel, Majid

Testu osoa Testu osoa Testu osoa

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair nork Shen, Jun, Gilmore, Edward C., Marshall, Christine A., Haddadin, Mary, Reynolds, John J., Eyaid, Wafaa, Bodell, Adria, Allen, Kathryn, Chang, Bernard S., Grix, Arthur, Hill, R. Sean, Topcu, Meral, Caldecott, Keith W., Barkovich, A. James, Walsh, Christopher A.

Testu osoa Testu osoa Testu osoa

Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial nork Alfadhel, Majid, Nashabat, Marwan, Saleh, Mohammed, Elamin, Mohammed, Alfares, Ahmed, Al Othaim, Ali, Umair, Muhammad, Ahmed, Hind, Ababneh, Faroug, Al Mutairi, Fuad, Eyaid, Wafaa, Alswaid, Abdulrahman, Alohali, Lina, Faqeih, Eissa, Almannai, Mohammed, Aljeraisy, Majed, Albdah, Bayan, Hussein, Mohamed A., Rahbeeni, Zuhair, Alasmari, Ali

Testu osoa Testu osoa Testu osoa

Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia nork Imtiaz, Faiqa, Al-Mubarak, Bashayer M., Al-Mostafa, Abeer, Al-Hamed, Mohamed, Allam, Rabab, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Rahbeeni, Zuhair, Qari, Alya, Faqeih, Eissa Ali, Alasmari, Ali, Al-Mutairi, Fuad, Alfadhel, Majid, Eyaid, Wafaa M., Rashed, Mohamed S., Al-Sayed, Moeenaldeen

Testu osoa Testu osoa Testu osoa

LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome nork Li, Yun, Pawlik, Barbara, Elcioglu, Nursel, Aglan, Mona, Kayserili, Hülya, Yigit, Gökhan, Percin, Ferda, Goodman, Frances, Nürnberg, Gudrun, Cenani, Asim, Urquhart, Jill, Chung, Boi-Dinh, Ismail, Samira, Amr, Khalda, Aslanger, Ayca D., Becker, Christian, Netzer, Christian, Scambler, Pete, Eyaid, Wafaa, Hamamy, Hanan, Clayton-Smith, Jill, Hennekam, Raoul, Nürnberg, Peter, Herz, Joachim, Temtamy, Samia A., Wollnik, Bernd

Testu osoa Testu osoa Testu osoa