Hyperhomocysteinemia: Clinical Insights

le Al Mutairi, Fuad
Foilsithe in J Cent Nerv Syst Dis (2020)

The fragile site WWOX gene and the developing brain

le Tabarki, Brahim, Al Mutairi, Fuad, Al Hashem, Amal
Foilsithe in Exp Biol Med (Maywood) (2015)

Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy

le Alsahli, Saud, Al‐Twaijri, Waleed, Al Mutairi, Fuad
Foilsithe in Epilepsia Open (2018)

Coexistence of genetic conditions: exploring a possible relationship

le Alaqeel, Bothainah, Babiker, Amir, Al Mutairi, Fuad, Al Dubayee, Mohammed
Foilsithe in Sudan J Paediatr (2019)

Diabetic ketoacidosis in vanishing white matter

le Alamri, Hannadi, Al Mutairi, Fuad, Alothman, Johara, Alothaim, Ali, Alfadhel, Majid, Alfares, Ahmed
Foilsithe in Clin Case Rep (2016)

Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy

le Almannai, Mohammed, Luo, Shiyu, Faqeih, Eissa, Al Mutairi, Fuad, Li, Qifei, Agrawal, Pankaj B.
Foilsithe in Circ Genom Precis Med (2021)

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

le Alsahli, Saud, Al Anazi, Aziz, Al Hatlani, Maher M., Kashgari, Amna, Al Sufiani, Fahd, Alfadhel, Majid, Al Mutairi, Fuad
Foilsithe in 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

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

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

le 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
Foilsithe in JIMD Rep (2017)

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

le 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
Foilsithe in Brain (2017)

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

le 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
Foilsithe in 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...

le 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
Foilsithe in BMC Pediatr (2019)

hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia

le 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.
Foilsithe in J Exp Med (2018)

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

le 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
Foilsithe in Mov Disord (2021)

Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia

le 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
Foilsithe in JIMD Rep (2015)

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

le 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.
Foilsithe in Am J Hum Genet (2021)

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

le 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
Foilsithe in Am J Hum Genet (2020)

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

le 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
Foilsithe in BMC Med Genomics (2020)

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

le 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
Foilsithe in Front Pediatr (2021)

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

le 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.
Foilsithe in Front Genet (2020)