Canlyniadau Chwilio - Al Mutairi, Fuad

Hyperhomocysteinemia: Clinical Insights gan Al Mutairi, Fuad

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The fragile site WWOX gene and the developing brain gan Tabarki, Brahim, Al Mutairi, Fuad, Al Hashem, Amal

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Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy gan Alsahli, Saud, Al‐Twaijri, Waleed, Al Mutairi, Fuad

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Coexistence of genetic conditions: exploring a possible relationship gan Alaqeel, Bothainah, Babiker, Amir, Al Mutairi, Fuad, Al Dubayee, Mohammed

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Diabetic ketoacidosis in vanishing white matter gan Alamri, Hannadi, Al Mutairi, Fuad, Alothman, Johara, Alothaim, Ali, Alfadhel, Majid, Alfares, Ahmed

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Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy gan Almannai, Mohammed, Luo, Shiyu, Faqeih, Eissa, Al Mutairi, Fuad, Li, Qifei, Agrawal, Pankaj B.

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The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia gan Alfarsi, Anar, Alfadhel, Majid, Alameer, Seham, Alhashem, Amal, Tabarki, Brahim, Ababneh, Faroug, Al Fares, Ahmed, Al Mutairi, Fuad

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Severe Crohn’s Disease Manifestations in a Child with Cystathionine β-Synthase Deficiency gan Alsahli, Saud, Al Anazi, Aziz, Al Hatlani, Maher M., Kashgari, Amna, Al Sufiani, Fahd, Alfadhel, Majid, Al Mutairi, Fuad

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DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learning gan Althagafi, Azza, Alsubaie, Lamia, Kathiresan, Nagarajan, Mineta, Katsuhiko, Aloraini, Taghrid, Al Mutairi, Fuad, Alfadhel, Majid, Gojobori, Takashi, Alfares, Ahmad, Hoehndorf, Robert

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

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

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HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients gan 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

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

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

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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... gan 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

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hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia gan 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.

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

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Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial gan 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

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Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia gan 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

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

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