Hyperhomocysteinemia: Clinical Insights

ανά Al Mutairi, Fuad
Τόπος έκδοσης J Cent Nerv Syst Dis (2020)

The fragile site WWOX gene and the developing brain

ανά Tabarki, Brahim, Al Mutairi, Fuad, Al Hashem, Amal
Τόπος έκδοσης Exp Biol Med (Maywood) (2015)

Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy

ανά Alsahli, Saud, Al‐Twaijri, Waleed, Al Mutairi, Fuad
Τόπος έκδοσης Epilepsia Open (2018)

Coexistence of genetic conditions: exploring a possible relationship

ανά Alaqeel, Bothainah, Babiker, Amir, Al Mutairi, Fuad, Al Dubayee, Mohammed
Τόπος έκδοσης Sudan J Paediatr (2019)

Diabetic ketoacidosis in vanishing white matter

ανά Alamri, Hannadi, Al Mutairi, Fuad, Alothman, Johara, Alothaim, Ali, Alfadhel, Majid, Alfares, Ahmed
Τόπος έκδοσης Clin Case Rep (2016)

Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy

ανά Almannai, Mohammed, Luo, Shiyu, Faqeih, Eissa, Al Mutairi, Fuad, Li, Qifei, Agrawal, Pankaj B.
Τόπος έκδοσης Circ Genom Precis Med (2021)

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

ανά Alsahli, Saud, Al Anazi, Aziz, Al Hatlani, Maher M., Kashgari, Amna, Al Sufiani, Fahd, Alfadhel, Majid, Al Mutairi, Fuad
Τόπος έκδοσης 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

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

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

ανά 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
Τόπος έκδοσης JIMD Rep (2017)

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

ανά 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
Τόπος έκδοσης Brain (2017)

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

ανά 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
Τόπος έκδοσης 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...

ανά 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
Τόπος έκδοσης BMC Pediatr (2019)

hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia

ανά 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.
Τόπος έκδοσης J Exp Med (2018)

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

ανά 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
Τόπος έκδοσης Mov Disord (2021)

Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia

ανά 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
Τόπος έκδοσης JIMD Rep (2015)

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

ανά 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.
Τόπος έκδοσης Am J Hum Genet (2021)

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

ανά 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
Τόπος έκδοσης Am J Hum Genet (2020)

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

ανά 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
Τόπος έκδοσης BMC Med Genomics (2020)

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

ανά 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
Τόπος έκδοσης Front Pediatr (2021)

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

ανά 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.
Τόπος έκδοσης Front Genet (2020)