المؤلفون: Fredwall, Svein^{Aff1, IDs12325024028803_cor1}, AlSayed, Moeenaldeen^{Aff2, Aff3}, Ben-Omran, Tawfeg, Boero, Silvio, Cormier-Daire, Valérie, Fauroux, Brigitte, Guillén-Navarro, Encarna^{Aff8, Aff9}, Innig, Florian, Kunkel, Philip, Lampe, Christian, Maghnie, Mohamad^{Aff13, Aff14}, Mohnike, Klaus, Mortier, Geert, Pejin, Zagorka, Sessa, Marco, Sousa, Sérgio B.^{Aff19, Aff20, Aff21, Aff22}, Irving, Melita

المصدر: Advances in Therapy. 41(7):2545-2558

المؤلفون: AlSayed, Moeenaldeen^{Aff1, IDs13023024032373_cor1}, Arafa, Dia, Al-Khawajha, Huda, Afqi, Manal, Al-Sanna’a, Nouriya, Sunbul, Rawda, Faden, Maha

المصدر: Orphanet Journal of Rare Diseases. 19(1)

المؤلفون: Irving, Melita^{Aff1, IDs13023023027952_cor1}, AlSayed, Moeenaldeen, Arundel, Paul, Baujat, Geneviève, Ben-Omran, Tawfeg, Boero, Silvio, Cormier-Daire, Valérie, Fredwall, Svein, Guillen-Navarro, Encarna, Hoyer-Kuhn, Heike, Kunkel, Philip, Lampe, Christian, Maghnie, Mohamad^{Aff13, Aff14}, Mohnike, Klaus, Mortier, Geert, Sousa, Sérgio B.

المصدر: Orphanet Journal of Rare Diseases. 18(1)

المؤلفون: Alanay, Yasemin^{Aff1, IDs1302302302755w_cor1}, Mohnike, Klaus, Nilsson, Ola^{Aff3, Aff4, Aff5}, Alves, Inês, AlSayed, Moeenaldeen^{Aff7, Aff8}, Appelman-Dijkstra, Natasha M., Baujat, Genevieve, Ben-Omran, Tawfeg, Breyer, Sandra, Cormier-Daire, Valerie^{Aff10, Aff13}, Gregersen, Pernille Axél, Guillén-Navarro, Encarna, Högler, Wolfgang, Maghnie, Mohamad^{Aff17, Aff18}, Mukherjee, Swati, Cohen, Shelda, Pimenta, Jeanne, Selicorni, Angelo, Semler, J. Oliver^{Aff21, Aff22}, Sigaudy, Sabine, Popkov, Dmitry, Sabir, Ian, Noval, Susana, Sessa, Marco, Irving, Melita

المصدر: Orphanet Journal of Rare Diseases. 18(1)

المؤلفون: Hengel, Holger, Bosso-Lefèvre, Célia, Grady, George, Szenker-Ravi, Emmanuelle, Li, Hankun, Pierce, Sarah, Lebigot, Élise, Tan, Thong-Teck, Eio, Michelle Y, Narayanan, Gunaseelan, Utami, Kagistia Hana, Yau, Monica, Handal, Nader, Deigendesch, Werner, Keimer, Reinhard, Marzouqa, Hiyam M, Gunay-Aygun, Meral, Muriello, Michael J, Verhelst, Helene, Weckhuysen, Sarah, Mahida, Sonal, Naidu, Sakkubai, Thomas, Terrence G, Lim, Jiin Ying, Tan, Ee Shien, Haye, Damien, Willemsen, Michèl AAP, Oegema, Renske, Mitchell, Wendy G, Pierson, Tyler Mark, Andrews, Marisa V, Willing, Marcia C, Rodan, Lance H, Barakat, Tahsin Stefan, van Slegtenhorst, Marjon, Gavrilova, Ralitza H, Martinelli, Diego, Gilboa, Tal, Tamim, Abdullah M, Hashem, Mais O, AlSayed, Moeenaldeen D, Abdulrahim, Maha M, Al-Owain, Mohammed, Awaji, Ali, Mahmoud, Adel AH, Faqeih, Eissa A, Asmari, Ali Al, Algain, Sulwan M, Jad, Lamyaa A, Aldhalaan, Hesham M, Helbig, Ingo, Koolen, David A, Riess, Angelika, Kraegeloh-Mann, Ingeborg, Bauer, Peter, Gulsuner, Suleyman, Stamberger, Hannah, Ng, Alvin Yu Jin, Tang, Sha, Tohari, Sumanty, Keren, Boris, Schultz-Rogers, Laura E, Klee, Eric W, Barresi, Sabina, Tartaglia, Marco, Mor-Shaked, Hagar, Maddirevula, Sateesh, Begtrup, Amber, Telegrafi, Aida, Pfundt, Rolph, Schüle, Rebecca, Ciruna, Brian, Bonnard, Carine, Pouladi, Mahmoud A, Stewart, James C, Claridge-Chang, Adam, Lefeber, Dirk J, Alkuraya, Fowzan S, Mathuru, Ajay S, Venkatesh, Byrappa, Barycki, Joseph J, Simpson, Melanie A, Jamuar, Saumya S, Schöls, Ludger, Reversade, Bruno

المصدر: Nature communications. 11(1)

مصطلحات موضوعية: Organoids, Animals, Zebrafish, Humans, Epilepsy, Syndrome, Oxidoreductases, Pedigree, Kinetics, Genes, Recessive, Alleles, Adolescent, Child, Child, Preschool, Infant, Female, Male, Protein Domains, Loss of Function Mutation, Preschool, Genes, Recessive

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5f80k46t

المؤلفون: Fredwall, Svein^{Aff1, IDs13023022024793_cor1}, Allum, Yana, AlSayed, Moeenaldeen^{Aff3, Aff4}, Alves, Inês, Ben-Omran, Tawfeg, Boero, Silvio, Cormier-Daire, Valerie, Guillen-Navarro, Encarna^{Aff9, Aff10}, Irving, Melita, Lampe, Christian, Maghnie, Mohamad^{Aff13, Aff14}, Mohnike, Klaus, Mortier, Geert, Sousa, Sérgio B.^{Aff17, Aff18}, Wright, Michael

المصدر: Orphanet Journal of Rare Diseases. 17(1)

المؤلفون: Cormier-Daire, Valerie^{Aff1, IDs13023022024422_cor1}, AlSayed, Moeenaldeen^{Aff2, Aff3}, Alves, Inês, Bengoa, Joana, Ben-Omran, Tawfeg, Boero, Silvio, Fredwall, Svein, Garel, Catherine, Guillen-Navarro, Encarna^{Aff10, Aff18}, Irving, Melita, Lampe, Christian, Maghnie, Mohamad^{Aff13, Aff19}, Mortier, Geert, Sousa, Sérgio B.^{Aff15, Aff16}, Mohnike, Klaus

المصدر: Orphanet Journal of Rare Diseases. 17(1)

المؤلفون: 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

المصدر: Journal of Inherited Metabolic Disease. 39(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Clinical Trials and Supportive Activities, Lung, Clinical Research, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Adolescent, Adult, Aged, Child, Child, Preschool, Chondroitinsulfatases, Double-Blind Method, Enzyme Replacement Therapy, Female, Forced Expiratory Volume, Humans, Long-Term Care, Male, Middle Aged, Mucopolysaccharidosis IV, Respiration, Respiratory Function Tests, Young Adult, Genetics & Heredity, Genetics, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9jn32153

المؤلفون: Cormier-Daire, Valerie, AlSayed, Moeenaldeen^{Aff2, Aff3}, Ben-Omran, Tawfeg, de Sousa, Sérgio Bernardo^{Aff5, Aff6}, Boero, Silvio, Fredwall, Svein O., Guillen-Navarro, Encarna, Irving, Melita, Lampe, Christian, Maghnie, Mohamad, Mortier, Geert, Peijin, Zagorka, Mohnike, Klaus^Aff15

المصدر: Orphanet Journal of Rare Diseases. 16(1)

المؤلفون: Nicolas-Jilwan, Manal^Aff1, Medlej, Rita, Sulaiman, Raashda A, AlSayed, Moeenaldeen

المصدر: Neuroradiology: A Journal Dedicated to Neuroimaging and Interventional Neuroradiology. 62(7):891-894