Hyperhomocysteinemia: Clinical Insights

著者: Al Mutairi, Fuad
出版年 J Cent Nerv Syst Dis (2020)

The fragile site WWOX gene and the developing brain

著者: Tabarki, Brahim, Al Mutairi, Fuad, Al Hashem, Amal
出版年 Exp Biol Med (Maywood) (2015)

Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy

著者: Alsahli, Saud, Al‐Twaijri, Waleed, Al Mutairi, Fuad
出版年 Epilepsia Open (2018)

Coexistence of genetic conditions: exploring a possible relationship

著者: Alaqeel, Bothainah, Babiker, Amir, Al Mutairi, Fuad, Al Dubayee, Mohammed
出版年 Sudan J Paediatr (2019)

Diabetic ketoacidosis in vanishing white matter

著者: Alamri, Hannadi, Al Mutairi, Fuad, Alothman, Johara, Alothaim, Ali, Alfadhel, Majid, Alfares, Ahmed
出版年 Clin Case Rep (2016)

Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy

著者: Almannai, Mohammed, Luo, Shiyu, Faqeih, Eissa, Al Mutairi, Fuad, Li, Qifei, Agrawal, Pankaj B.
出版年 Circ Genom Precis Med (2021)

Severe Crohn’s Disease Manifestations in a Child with Cystathionine β-Synthase Deficiency

著者: Alsahli, Saud, Al Anazi, Aziz, Al Hatlani, Maher M., Kashgari, Amna, Al Sufiani, Fahd, Alfadhel, Majid, Al Mutairi, Fuad
出版年 ACG Case Rep J (2018)

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

著者: Alfadhel, Majid, Benmeakel, Mohammed, Hossain, Mohammad Arif, Al Mutairi, Fuad, Al Othaim, Ali, Alfares, Ahmed A., Al Balwi, Mohammed, Alzaben, Abdullah, Eyaid, Wafaa
出版年 Orphanet J Rare Dis (2016)

Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency

著者: 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
出版年 JIMD Rep (2017)

The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders

著者: Salpietro, Vincenzo, Zollo, Massimo, Vandrovcova, Jana, Ryten, Mina, Botia, Juan A, Ferrucci, Veronica, Manole, Andreea, Efthymiou, Stephanie, Al Mutairi, Fuad, Bertini, Enrico, Tartaglia, Marco, Houlden, Henry
出版年 Brain (2017)

Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report

著者: Al Mutairi, Fuad, Alkhalaf, Randa, Alkhorayyef, Abdullah, Alroqi, Fayhan, Yusra, Alyafee, Umair, Muhammad, Nouf, Fetaini, Khan, Amjad, Meshael, Alharbi, Hamad, Aleidi, Monira, Alaujan, Asiri, Abdulaziz, Alhamoudi, Kheloud M., Alfadhel, Majid
出版年 BMC Pulm Med (2020)

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...

著者: 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
出版年 BMC Pediatr (2019)

hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia

著者: Mackie, Duncan I., Al Mutairi, Fuad, Davis, Reema B., Kechele, Daniel O., Nielsen, Natalie R., Snyder, Joshua C., Caron, Marc G., Kliman, Harvey J., Berg, Jonathan S., Simms, John, Poyner, David R., Caron, Kathleen M.
出版年 J Exp Med (2018)

LRRK2 Loss‐of‐Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact

著者: Beetz, Christian, Westenberger, Ana, Al‐Ali, Ruslan, Ameziane, Najim, Alhashmi, Nadia, Boustany, Rose‐Mary, Al Mutairi, Fuad, Alfadhel, Majid, Al‐Hassnan, Zuhair, AlSayed, Moenaldeen, Kandaswamy, Krishna K., Paknia, Omid, Skrahina, Volha, Rolfs, Arndt, Bauer, Peter
出版年 Mov Disord (2021)

Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia

著者: 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
出版年 JIMD Rep (2015)

UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism

著者: Li, Chunmei, Beauregard-Lacroix, Eliane, Kondratev, Christine, Rousseau, Justine, Heo, Ah Jung, Neas, Katherine, Graham, Brett H., Rosenfeld, Jill A., Bacino, Carlos A., Wagner, Matias, Wenzel, Maren, Al Mutairi, Fuad, Al Deiab, Hamad, Gleeson, Joseph G., Stanley, Valentina, Zaki, Maha S., Kwon, Yong Tae, Leroux, Michel R., Campeau, Philippe M.
出版年 Am J Hum Genet (2021)

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities

著者: Wagner, Matias, Skorobogatko, Yuliya, Pode-Shakked, Ben, Powell, Cynthia M., Alhaddad, Bader, Seibt, Annette, Barel, Ortal, Heimer, Gali, Hoffmann, Chen, Demmer, Laurie A., Perilla-Young, Yezmin, Remke, Marc, Wieczorek, Dagmar, Navaratnarajah, Tharsini, Lichtner, Peter, Klee, Dirk, Shamseldin, Hanan E., Al Mutairi, Fuad, Mayatepek, Ertan, Strom, Tim, Meitinger, Thomas, Alkuraya, Fowzan S., Anikster, Yair, Saltiel, Alan R., Distelmaier, Felix
出版年 Am J Hum Genet (2020)

What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations

著者: Alfares, Ahmed, Alsubaie, Lamia, Aloraini, Taghrid, Alaskar, Aljoharah, Althagafi, Azza, Alahmad, Ahmed, Rashid, Mamoon, Alswaid, Abdulrahman, Alothaim, Ali, Eyaid, Wafaa, Ababneh, Faroug, Albalwi, Mohammed, Alotaibi, Raniah, Almutairi, Mashael, Altharawi, Nouf, Alsamer, Alhanouf, Abdelhakim, Marwa, Kafkas, Senay, Mineta, Katsuhiko, Cheung, Nicole, Abdallah, Abdallah, Büchmann-Møller, Stine, Fukasawa, Yoshinori, Zhao, Xiang, Rajan, Issaac, Hoehndorf, Robert, Al Mutairi, Fuad, Gojobori, Takashi, Alfadhel, Majid
出版年 BMC Med Genomics (2020)

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data

著者: Alfadhel, Majid, Almuqbil, Mohammed, Al Mutairi, Fuad, Umair, Muhammad, Almannai, Mohammed, Alghamdi, Malak, Althiyab, Hamad, Albarakati, Rayyan, Bashiri, Fahad A., Alshuaibi, Walaa, Ba-Armah, Duaa, Saleh, Mohammed A., Al-Asmari, Ali, Faqeih, Eissa, Altuwaijri, Waleed, Al-Rumayyan, Ahmed, Balwi, Mohammed Ali, Ababneh, Faroug, Alswaid, Abdulrahman Faiz, Eyaid, Wafaa M., Almontashiri, Naif A. M., Alhashem, Amal, Hundallah, Khalid, Bertoli-Avella, Aida, Bauer, Peter, Beetz, Christian, Alrifai, Muhammad Talal, Alfares, Ahmed, Tabarki, Brahim
出版年 Front Pediatr (2021)

Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update

著者: Maddirevula, Sateesh, Shamseldin, Hanan E., Sirr, Amy, AlAbdi, Lama, Lo, Russell S., Ewida, Nour, Al-Qahtani, Mashael, Hashem, Mais, Abdulwahab, Firdous, Aboyousef, Omar, Kaya, Namik, Monies, Dorota, Salem, May H., Al Harbi, Naffaa, Aldhalaan, Hesham M., Alzaidan, Hamad, Almanea, Hadeel M., Alsalamah, Abrar K., Al Mutairi, Fuad, Ismail, Samira, Abdel-Salam, Ghada M. H., Alhashem, Amal, Asery, Ali, Faqeih, Eissa, AlQassmi, Amal, Al-Hamoudi, Waleed, Algoufi, Talal, Shagrani, Mohammad, Dudley, Aimée M., Alkuraya, Fowzan S.
出版年 Front Genet (2020)