检索结果 - AlSayed, Moeenaldeen

Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants 由 Al Masseri, Zainab, AlSayed, Moeenaldeen

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Variation in DNAH1 may contribute to primary ciliary dyskinesia 由 Imtiaz, Faiqa, Allam, Rabab, Ramzan, Khushnooda, Al-Sayed, Moeenaldeen

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Mutations underlying 3-Hydroxy-3-Methylglutaryl CoA Lyase deficiency in the Saudi population 由 Al-Sayed, Moeenaldeen, Imtiaz, Faiqa, Alsmadi, Osama A, Rashed, Mohammed S, Meyer, Brian F

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Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene 由 Tomanin, Rosella, Karageorgos, Litsa, Zanetti, Alessandra, Al‐Sayed, Moeenaldeen, Bailey, Mitch, Miller, Nicole, Sakuraba, Hitoshi, Hopwood, John J.

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Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3) 由 Alsmadi, Osama, Meyer, Brian F, Alkuraya, Fowzan, Wakil, Salma, Alkayal, Fadi, Al-Saud, Haya, Ramzan, Khushnooda, Al-Sayed, MoeenAldeen

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Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy 由 Sulaiman, Raashda Ainuddin, Shaheen, Marwan Yassin, Al-Zaidan, Hamad, Al-Hassnan, Zuhair, Al-Sayed, Moeenaldeen, Rahbeeni, Zuhair, Bakshi, Nasir Ahmed, Kaya, Namik, Aldosary, Mazhor, Al-Owain, Mohammed

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Guidelines for acute management of hyperammonemia in the Middle East region 由 Alfadhel, Majid, Mutairi, Fuad Al, Makhseed, Nawal, Jasmi, Fatma Al, Al-Thihli, Khalid, Al-Jishi, Emtithal, AlSayed, Moeenaldeen, Al-Hassnan, Zuhair N, Al-Murshedi, Fathiya, Häberle, Johannes, Ben-Omran, Tawfeg

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The first European consensus on principles of management for achondroplasia 由 Cormier-Daire, Valerie, AlSayed, Moeenaldeen, Ben-Omran, Tawfeg, de Sousa, Sérgio Bernardo, Boero, Silvio, Fredwall, Svein O., Guillen-Navarro, Encarna, Irving, Melita, Lampe, Christian, Maghnie, Mohamad, Mortier, Geert, Peijin, Zagorka, Mohnike, Klaus

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Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds 由 Faiyaz-Ul-Haque, Muhammad, Al-Sayed, Moeenaldeen D., Faqeih, Eissa, Jamil, Masood, Saeed, Anjum, Amoudi, Mohamed Saleh, Kaya, Namik, Abalkhail, Halah, Al-Abdullatif, Ahmed, Rashed, Mohamed, Al-Owain, Mohammed, Peltekova, Iskra, Zaidi, Syed HE

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Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia 由 Al-Hamed, Mohamed H., Imtiaz, Faiqa, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Alamoudi, Mohamed S., Faqeih, Eissa, Alfadhel, Majid, Al-Asmari, Ali, Saleh, M.M., Almutairi, Fuad, Moghrabi, Nabil, AlSayed, Moeenaldeen

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Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations 由 Cormier-Daire, Valerie, AlSayed, Moeenaldeen, Alves, Inês, Bengoa, Joana, Ben-Omran, Tawfeg, Boero, Silvio, Fredwall, Svein, Garel, Catherine, Guillen-Navarro, Encarna, Irving, Melita, Lampe, Christian, Maghnie, Mohamad, Mortier, Geert, Sousa, Sérgio B., Mohnike, Klaus

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Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome 由 Hendriksz, Christian J., Berger, Kenneth I., Parini, Rossella, AlSayed, Moeenaldeen D., Raiman, Julian, Giugliani, Roberto, Mitchell, John J., Burton, Barbara K., Guelbert, Norberto, Stewart, Fiona, Hughes, Derralynn A., Matousek, Robert, Jurecki, Elaina, Decker, Celeste, Harmatz, Paul R.

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Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease 由 Imtiaz, Faiqa, Al-Mostafa, Abeer, Allam, Rabab, Ramzan, Khushnooda, Al-Tassan, Nada, Tahir, Asma I., Al-Numair, Nouf S., Al-Hamed, Mohamed H., Al-Hassnan, Zuhair, Al-Owain, Mohammad, Al-Zaidan, Hamad, Al-Amoudi, Mohammad, Qari, Alya, Balobaid, Ameera, Al-Sayed, Moeenaldeen

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Validation of Ion Torrent(TM) Inherited Disease Panel with the PGM(TM) Sequencing Platform for Rapid and Comprehensive Mutation Detection 由 Mustafa, Abeer E., Faquih, Tariq, Baz, Batoul, Kattan, Rana, Al-Issa, Abdulelah, Tahir, Asma I., Imtiaz, Faiqa, Ramzan, Khushnooda, Al-Sayed, Moeenaldeen, Alowain, Mohammed, Al-Hassnan, Zuhair, Al-Zaidan, Hamad, Abouelhoda, Mohamed, Al-Mubarak, Bashayer R., Al Tassan, Nada A.

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Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants 由 Zanetti, Alessandra, D'Avanzo, Francesca, AlSayed, Moeenaldeen, Brusius‐Facchin, Ana Carolina, Chien, Yin‐Hsiu, Giugliani, Roberto, Izzo, Emanuela, Kasper, David C., Lin, Hsiang‐Yu, Lin, Shuan‐Pei, Pollard, Laura, Singh, Akashdeep, Tonin, Rodolfo, Wood, Tim, Morrone, Amelia, Tomanin, Rosella

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Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay 由 Al-Sayed, Moeenaldeen D., Al-Zaidan, Hamad, Albakheet, AlBandary, Hakami, Hana, Kenana, Rosan, Al-Yafee, Yusra, Al-Dosary, Mazhor, Qari, Alya, Al-Sheddi, Tarfa, Al-Muheiza, Muhammed, Al-Qubbaj, Wafa, Lakmache, Yamina, Al-Hindi, Hindi, Ghaziuddin, Muhammad, Colak, Dilek, Kaya, Namik

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Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia 由 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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SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion 由 Aldosary, Mazhor, Baselm, Shahad, Abdulrahim, Maha, Almass, Rawan, Alsagob, Maysoon, AlMasseri, Zainab, Huma, Rozeena, AlQuait, Laila, Al‐Shidi, Tarfa, Al‐Obeid, Eman, AlBakheet, Albandary, Alahideb, Basma, Alahaidib, Lujane, Qari, Alya, Taylor, Robert W., Colak, Dilek, AlSayed, Moeenaldeen D., Kaya, Namik

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Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans 由 Alzahrani, Fatema, Kuwahara, Hiroyuki, Long, Yongkang, Al-Owain, Mohammed, Tohary, Mohamed, AlSayed, Moeenaldeen, Mahnashi, Mohammed, Fathi, Lana, Alnemer, Maha, Al-Hamed, Mohamed H., Lemire, Gabrielle, Boycott, Kym M., Hashem, Mais, Han, Wenkai, Al-Maawali, Almundher, Al Mahrizi, Feisal, Al-Thihli, Khalid, Gao, Xin, Alkuraya, Fowzan S.

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Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases 由 Maas, Roeltje R., Iwanicka‐Pronicka, Katarzyna, Kalkan Ucar, Sema, Alhaddad, Bader, AlSayed, Moeenaldeen, Al‐Owain, Mohammed A., Al‐Zaidan, Hamad I., Balasubramaniam, Shanti, Barić, Ivo, Bubshait, Dalal K., Burlina, Alberto, Christodoulou, John, Chung, Wendy K., Colombo, Roberto, Darin, Niklas, Freisinger, Peter, Garcia Silva, Maria Teresa, Grunewald, Stephanie, Haack, Tobias B., van Hasselt, Peter M., Hikmat, Omar, Hörster, Friederike, Isohanni, Pirjo, Ramzan, Khushnooda, Kovacs‐Nagy, Reka, Krumina, Zita, Martin‐Hernandez, Elena, Mayr, Johannes A., McClean, Patricia, De Meirleir, Linda, Naess, Karin, Ngu, Lock H., Pajdowska, Magdalena, Rahman, Shamima, Riordan, Gillian, Riley, Lisa, Roeben, Benjamin, Rutsch, Frank, Santer, Rene, Schiff, Manuel, Seders, Martine, Sequeira, Silvia, Sperl, Wolfgang, Staufner, Christian, Synofzik, Matthis, Taylor, Robert W., Trubicka, Joanna, Tsiakas, Konstantinos, Unal, Ozlem, Wassmer, Evangeline, Wedatilake, Yehani, Wolff, Toni, Prokisch, Holger, Morava, Eva, Pronicka, Ewa, Wevers, Ron A., de Brouwer, Arjan P., Wortmann, Saskia B.

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