Výsledky vyhledávání - Buthaina Albash

SCYL1 deficiency and intrafamilial variability: Two cases from Kuwait Autor Laila Kazem, Wafaa Al-Qabandi, Buthaina Albash, Reem Elshafie, Miao He, Hind Alsharhan

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Integration of validated functional evidence to support the pathogenicity of KCNH2 variants Autor Reema W. Aljassar, Qianyi Shen, Buthaina Albash, Jamie I. Vandenberg, Mohammad A. Ebrahim, Chai-Ann Ng

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A Homozygous Founder ELAC2 Variant in Kuwaiti Infants With Fatal Cardiomyopathy and Refractory Severe Lactic Acidosis: A Retrospective Review of the Clinical, Cardiological and Mol... Autor Hind Alsharhan, Worood Alostad, Alshaymaa A. Ali, Mohammad A. Ebrahim, Hesham A. F. Mohammed, Ahmad Alahmad, Hashem Alhashemi, Walid M. Hassan, Ahmad E. M. S. Alhaj, Rasha M. Alsafi, Buthaina Albash

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Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants Autor Maryam Aburezq, Ahmad Alahmad, Rasha Alsafi, Asma Al-Tawari, Dina Ramadan, Magdy Shafik, Omar Abdelaty, Nawal Makhseed, Reem Elshafie, Mariam Ayed, Abrar Hayat, Fatima Dashti, Dana Marafi, Buthaina Albash, Laila Bastaki, Hind Alsharhan

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Insights from the Newborn Screening Program for Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency in Kuwait Autor Hind Alsharhan, Amir A. Ahmed, Marwa Abdullah, Moudhi Almaie, Makia J. Marafie, Ibrahim Sulaiman, Reem M. Elshafie, Ahmad Alahmad, Asma Alshammari, Parakkal Xavier Cyril, Usama M. Elkazzaz, Samia M. Ibrahim, Mohamed Elghitany, Ayman M. Salloum, Fahmy Yassen, Rasha Alsafi, Laila Bastaki, Buthaina Albash

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Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience Autor Hind Alsharhan, Amir A. Ahmed, Naser M. Ali, Ahmad Alahmad, Buthaina Albash, Reem M. Elshafie, Sumaya Alkanderi, Usama M. Elkazzaz, Parakkal Xavier Cyril, Rehab M. Abdelrahman, Alaa A. Elmonairy, Samia M. Ibrahim, Yasser M. E. Elfeky, Doaa I. Sadik, Sara D. Al-Enezi, Ayman M. Salloum, Yadav Girish, Mohammad Al-Ali, Dina G. Ramadan, Rasha Alsafi, May Al-Rushood, Laila Bastaki

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