المؤلفون: Alhaddad, Mariam E., Mohammad, Anwar, Dashti, Khadija M., John, Sumi Elsa, Bahbahani, Yousif, Abu-Farha, Mohamed, Abubaker, Jehad, Thanaraj, Thangavel Alphonse, Bastaki, Laila, Al-Mulla, Fahd, Al-Ali, Mohammad, Ali, Hamad

المصدر: In Heliyon 15 July 2024 10(13)

المؤلفون: Aburezq, Maryam, Alahmad, Ahmad, Alsafi, Rasha, Al-Tawari, Asma, Ramadan, Dina, Shafik, Magdy, Abdelaty, Omar, Makhseed, Nawal, Elshafie, Reem, Ayed, Mariam, Hayat, Abrar, Dashti, Fatima, Marafi, Dana^{Aff2, Aff10}, Albash, Buthaina, Bastaki, Laila, Alsharhan, Hind^{Aff1, Aff2, Aff10, Aff11, IDs1302302302888y_cor16}

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

المؤلفون: Ghosh, Shereen Georges, Wang, Lu, Breuss, Martin W, Green, Joshua D, Stanley, Valentina, Yang, Xiaoxu, Ross, Danica, Traynor, Bryan J, Alhashem, Amal M, Azam, Matloob, Selim, Laila, Bastaki, Laila, Elbastawisy, Hanan I, Temtamy, Samia, Zaki, Maha, Gleeson, Joseph G

المصدر: Journal of Medical Genetics. 57(4)

مصطلحات موضوعية: Biochemistry and Cell Biology, Bioinformatics and Computational Biology, Genetics, Biological Sciences, Intellectual and Developmental Disabilities (IDD), Pediatric, Neurosciences, Brain Disorders, Congenital Structural Anomalies, Clinical Research, Human Genome, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Neurological, Amino Acid Sequence, Child, Child, Preschool, Consanguinity, Endoplasmic Reticulum, Exons, Female, Genetic Predisposition to Disease, Homozygote, Humans, Male, Membrane Proteins, Microcephaly, Mutation, Protein Disulfide-Isomerases, Protein Folding, Thioredoxins, Exome Sequencing, TMX2, thioredoxin, ER stress, microlissencephaly, protein disulfide isomerase, Medical and Health Sciences, Genetics & Heredity, Clinical sciences

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URL الوصول: https://escholarship.org/uc/item/7f55k9s5

المؤلفون: Haag, Natja, Tan, Ene-Choo, Begemann, Matthias, Buschmann, Lars, Kraft, Florian, Holschbach, Petra, Lai, Angeline H. M., Brett, Maggie, Mochida, Ganeshwaran H., DiTroia, Stephanie, Pais, Lynn, Neil, Jennifer E.^{Aff4, Aff6}, Al-Saffar, Muna^{Aff4, Aff7}, Bastaki, Laila, Walsh, Christopher A.^{Aff4, Aff6}, Kurth, Ingo, Knopp, Cordula^Aff1

المصدر: European Journal of Human Genetics. 29(11):1663-1668

المؤلفون: Adoukonou, Thierry, Aryani, Omid, Barisic, Nina, Bashiri, Fahad, Bastaki, Laila, Benitto, Afaf, Omran, Tawfeg Ben, Bernert, Guenther, Bertini, Enrico, Borde, Patricia, Born, Peter, Boustani, Rose-Mary, Butoianu, Nina, Castiglioni, Claudia, Catibusic, Feriha, Chan, Sophelia, Chien, Yin Hsiu, Christodoulou, Kyproula, Dejsuphong, Donniphat, Farrar, Michelle, Filip, Duma, Goemans, Nathalie, Guinhouya, Kokou, Haberlova, Jana, Hadzsiev, Kinga, Hovhannesyan, Kristine, Isohanni, Pirjo, Radovic, Nelica Ivanovic, Jacquier, David, Jalloh, Alusine, Jedrzejowska, Maria, Kandawasvika, Gwen, Kaputu, Celestin, Kawatu, Nfwama, Kernohan, Kristin, Kirschner, Jan, Klink, Barbara, Kodsy, Sherry, Kouame-Assouan, Ange-Eric, Kravljanac, Ruzica, Kreile, Madara, Litvinenko, Ivan, McMillan, Hugh, Mesa, Sandra, Mohamed, Inaam, Kanzoska, Liljana Muaremoska, Nevo, Yoram, Nguefack, Seraphin, Nkole, Kafula, O'Grady, Gina, O'Rourke, Declan, Oskoui, Maryam, Piazzon, Flavia, Poddighe, Dimitri, Prasauskiene, Audrone, Prieto, Juan, Rasmussen, Magnhild, Razafindrasata, Santara, Saha, Narayan, Saito, Kayoko, Sakadi, Foksouna, Sangare, Modibo, Schroth, Mary, Shalkevich, Leanid, Shatillo, Andriy, Suthar, Renu, Szabo, Lena, Tatishvili, Nana, Tazir, Meriem, Tizzano, Eduardo, Topaloglu, Haluk, Tulinius, Mar, van der Pol, Ludo, Vazquez, Gabriel, Vlodavets, Dimitry, Wanigasinghe, Jithangi, Wilmshurst, Jo, Xiong, Hui, Zafeiriou, Dimitrios, Zamba, Eleni, Dangouloff, Tamara, Vrščaj, Eva, Servais, Laurent, Osredkar, Damjan

المصدر: In Neuromuscular Disorders June 2021 31(6):574-582

المؤلفون: AlTawari, Asma, Zakaria, Mohammad, Kamel, Walaa, Shaalan, Nayera, Elghazawi, Gamal Ahmed Ismail, Ali, Mohamed Esmat Anwar, Salota, Dalia, Attia, Amr, Elanay, Ehab Elsayed Ali, Shalaby, Osama, Alqallaf, Fatema, Mitic, Vesna, Bastaki, Laila

المصدر: Neurology International; Jun2024, Vol. 16 Issue 3, p631-642, 12p

مصطلحات موضوعية: SPINAL muscular atrophy, NEUROMUSCULAR diseases, MUSCLE weakness, MUSCULAR atrophy, HEALTH facilities, MOVEMENT disorders

مصطلحات جغرافية: KUWAIT

الشركة/الكيان: CHILDREN'S Hospital of Philadelphia

المؤلفون: Akizu, Naiara, Cantagrel, Vincent, Zaki, Maha S, Al-Gazali, Lihadh, Wang, Xin, Rosti, Rasim Ozgur, Dikoglu, Esra, Gelot, Antoinette Bernabe, Rosti, Basak, Vaux, Keith K, Scott, Eric M, Silhavy, Jennifer L, Schroth, Jana, Copeland, Brett, Schaffer, Ashleigh E, Gordts, Philip LSM, Esko, Jeffrey D, Buschman, Matthew D, Field, Seth J, Napolitano, Gennaro, Abdel-Salam, Ghada M, Ozgul, R Koksal, Sagıroglu, Mahmut Samil, Azam, Matloob, Ismail, Samira, Aglan, Mona, Selim, Laila, Mahmoud, Iman G, Abdel-Hadi, Sawsan, Badawy, Amera El, Sadek, Abdelrahim A, Mojahedi, Faezeh, Kayserili, Hulya, Masri, Amira, Bastaki, Laila, Temtamy, Samia, Müller, Ulrich, Desguerre, Isabelle, Casanova, Jean-Laurent, Dursun, Ali, Gunel, Murat, Gabriel, Stacey B, de Lonlay, Pascale, Gleeson, Joseph G

المصدر: Nature Genetics. 47(5)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Brain Disorders, Clinical Research, Animals, Atrophy, Autophagy, Cerebellar Diseases, Cerebellum, Child, Preschool, Female, Gene Frequency, Humans, Infant, Lod Score, Lysosomal Storage Diseases, Lysosomes, Male, Mutation, Phagosomes, Sorting Nexins, Spinocerebellar Ataxias, Syndrome, Zebrafish, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology, Genetics

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URL الوصول: https://escholarship.org/uc/item/57n4q5z6

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المؤلفون: Akizu, Naiara, Shembesh, Nuri M, Ben-Omran, Tawfeg, Bastaki, Laila, Al-Tawari, Asma, Zaki, Maha S, Koul, Roshan, Spencer, Emily, Rosti, Rasim Ozgur, Scott, Eric, Nickerson, Elizabeth, Gabriel, Stacey, da Gente, Gilberto, Li, Jiang, Deardorff, Matthew A, Conlin, Laura K, Horton, Margaret A, Zackai, Elaine H, Sherr, Elliott H, Gleeson, Joseph G

المصدر: American Journal of Human Genetics. 92(3)

مصطلحات موضوعية: Biological Sciences, Genetics, Pediatric, Clinical Research, Agenesis of Corpus Callosum, Amino Acid Sequence, Cerebral Cortex, Codon, Corpus Callosum, Exome, Female, Genetic Predisposition to Disease, Humans, Male, Methionine, Molecular Sequence Data, Mutation, Sequence Analysis, DNA, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/02z0s86m

المؤلفون: Yu, Timothy W, Chahrour, Maria H, Coulter, Michael E, Jiralerspong, Sarn, Okamura-Ikeda, Kazuko, Ataman, Bulent, Schmitz-Abe, Klaus, Harmin, David A, Adli, Mazhar, Malik, Athar N, D’Gama, Alissa M, Lim, Elaine T, Sanders, Stephan J, Mochida, Ganesh H, Partlow, Jennifer N, Sunu, Christine M, Felie, Jillian M, Rodriguez, Jacqueline, Nasir, Ramzi H, Ware, Janice, Joseph, Robert M, Hill, R Sean, Kwan, Benjamin Y, Al-Saffar, Muna, Mukaddes, Nahit M, Hashmi, Asif, Balkhy, Soher, Gascon, Generoso G, Hisama, Fuki M, LeClair, Elaine, Poduri, Annapurna, Oner, Ozgur, Al-Saad, Samira, Al-Awadi, Sadika A, Bastaki, Laila, Ben-Omran, Tawfeg, Teebi, Ahmad S, Al-Gazali, Lihadh, Eapen, Valsamma, Stevens, Christine R, Rappaport, Leonard, Gabriel, Stacey B, Markianos, Kyriacos, State, Matthew W, Greenberg, Michael E, Taniguchi, Hisaaki, Braverman, Nancy E, Morrow, Eric M, Walsh, Christopher A

المصدر: Neuron. 77(2)

مصطلحات موضوعية: Biological Psychology, Biomedical and Clinical Sciences, Neurosciences, Psychology, Human Genome, Brain Disorders, Genetic Testing, Genetics, Clinical Research, Intellectual and Developmental Disabilities (IDD), Mental Health, Autism, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Animals, Autistic Disorder, Cells, Cultured, Child, Child, Preschool, Cohort Studies, Exome, Female, Genome-Wide Association Study, Humans, Male, Pedigree, Rats, Sequence Analysis, DNA, Young Adult, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology

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URL الوصول: https://escholarship.org/uc/item/4ct507jw