المؤلفون: AlHargan, Aljouhra, AlMuhaizea, Mohammed A, AlMass, Rawan, Alwadei, Ali H, Daghestani, Maha, Arold, Stefan T., Kaya, Namik

المساهمون: Computational Biology Research Center, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia., Bioscience Program, Computational Bioscience Research Center (CBRC), Biological and Environmental Science and Engineering (BESE) Division, Centre de Biologie Structurale (CBS), INSERM, CNRS, Université de Montpellier, F-34090 Montpellier, France.

وصف الملف: application/pdf; application/zip

Relation: https://www.nature.com/articles/s41439-023-00234-z; AlHargan, A., AlMuhaizea, M. A., Almass, R., Alwadei, A. H., Daghestani, M., Arold, S. T., & Kaya, N. (2023). SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature. Human Genome Variation, 10(1). https://doi.org/10.1038/s41439-023-00234-z; Human genome variation; PMC9944922; http://hdl.handle.net/10754/688179; 10

الاتاحة: http://hdl.handle.net/10754/688179
https://doi.org/10.1038/s41439-023-00234-z

المؤلفون: Al-Hassnan, Zuhair, AlDosary, Mazhor, AlHargan, Aljouhra, AlQudairy, Hanan, Almass, Rawan, Alahmadi, Khaled Omar, AlShahrani, Saif, AlBakheet, Albandary, Almuhaizea, Mohammad A., Taylor, Robert W., Colak, Dilek, Kaya, Namik

المصدر: Frontiers in Psychiatry; 2024, p1-10, 10p

مصطلحات موضوعية: GENETIC testing, MITOCHONDRIAL DNA, MISSENSE mutation, RESPIRATORY measurements, HUMAN genome

المؤلفون: Scala, Marcello, Wortmann, Saskia B., Kaya, Namik, Stellingwerff, Menno D., Pistorio, Angela, Glamuzina, Emma, van Karnebeek, Clara D., Skrypnyk, Cristina, Iwanicka-Pronicka, Katarzyna, Piekutowska-Abramczuk, Dorota, Ciara, Elżbieta, Tort, Frederic, Sheidley, Beth, Poduri, Annapurna, Jayakar, Parul, Jayakar, Anuj, Upadia, Jariya, Walano, Nicolette, Haack, Tobias B., Prokisch, Holger, Aldhalaan, Hesham, Karimiani, Ehsan G., Yildiz, Yilmaz, Ceylan, Ahmet C., Santiago-Sim, Teresa, Dameron, Amy, Yang, Hui, Toosi, Mehran B., Ashrafzadeh, Farah, Akhondian, Javad, Imannezhad, Shima, Mirzadeh, Hanieh S., Maqbool, Shazia, Farid, Aisha, Al-Muhaizea, Mohamed A., Alshwameen, Meznah O., Aldowsari, Lama, Alsagob, Maysoon, Alyousef, Ashwaq, AlMass, Rawan, AlHargan, Aljouhra, Alwadei, Ali H., AlRasheed, Maha M., Colak, Dilek, Alqudairy, Hanan, Khan, Sameena, Lines, Matthew A., García Cazorla, M. Ángeles, Ribes, Antonia, Morava, Eva, Bibi, Farah, Haider, Shahzad, Ferla, Matteo P., Taylor, Jenny C., Alsaif, Hessa S., Firdous, Abdulwahab, Hashem, Mais, Shashkin, Chingiz, Koneev, Kairgali, Kaiyrzhanov, Rauan, Efthymiou, Stephanie, Genomics, Queen Square, Schmitt-Mechelke, Thomas, Ziegler, Andreas, Issa, Mahmoud Y., Elbendary, Hasnaa M., Striano, Pasquale, Alkuraya, Fowzan S., Zaki, Maha S., Gleeson, Joseph G., Barakat, Tahsin Stefan, Bierau, Jorgen, van der Knaap, Marjo S., Maroofian, Reza, Houlden, Henry

المصدر: Scala , M , Wortmann , S B , Kaya , N , Stellingwerff , M D , Pistorio , A , Glamuzina , E , van Karnebeek , C D , Skrypnyk , C , Iwanicka-Pronicka , K , Piekutowska-Abramczuk , D , Ciara , E , Tort , F , Sheidley , B , Poduri , A , Jayakar , P , Jayakar , A , Upadia , J , Walano , N , Haack , T B , Prokisch , H , Aldhalaan , H , Karimiani , E G , Yildiz , Y , Ceylan ....

مصطلحات موضوعية: congenital microcephaly, developmental and epileptic encephalopathy 35, heart disease, ITPA, ITPase, white matter abnormalities, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

الاتاحة: https://research.vu.nl/en/publications/f1895b2e-8f94-4932-a37a-30cbfce24676
https://doi.org/10.1002/humu.24326
https://hdl.handle.net/1871.1/f1895b2e-8f94-4932-a37a-30cbfce24676
http://www.scopus.com/inward/record.url?scp=85122725382&partnerID=8YFLogxK
http://www.scopus.com/inward/citedby.url?scp=85122725382&partnerID=8YFLogxK

المؤلفون: Sanderson, Leslie E., Lanko, Kristina, Alsagob, Maysoon, Almass, Rawan, Al-Ahmadi, Nada, Najafi, Maryam, Al-Muhaizea, Mohammad A., Alzaidan, Hamad, Aldhalaan, Hesham, Perenthaler, Elena, Van Der Linde, Herma C., Nikoncuk, Anita, Kühn, Nikolas A., Antony, Dinu, Owaidah, Tarek Mustafa, Raskin, Salmo, Vieira, Luana Gabriela Dalla Rosa, Mombach, Romulo, Ahangari, Najmeh, Silveira, Tainá Regina Damaceno, Ameziane, Najim, Rolfs, Arndt, Alharbi, Aljohara, Sabbagh, Raghda M., Alahmadi, Khalid, Alawam, Bashayer, Ghebeh, Hazem, Alhargan, Aljouhra, Albader, Anoud A., Binhumaid, Faisal S., Goljan, Ewa, Monies, Dorota, Mustafa, Osama M., Aldosary, Mazhor, Albakheet, Albandary, Alyounes, Banan, Almutairi, Faten, Al-Odaib, Ali, Aksoy, Durdane Bekar, Basak, A. Nazli, Palvadeau, Robin, Trabzuni, Daniah, Rosenfeld, Jill A., Karimiani, Ehsan Ghayoor, Meyer, Brian F., Karakas, Bedri, Al-Mohanna, Futwan, Arold, Stefan T., Colak, Dilek, Maroofian, Reza, Houlden, Henry, Bertoli-Avella, Aida M., Schmidts, Miriam, Barakat, Tahsin Stefan, Van Ham, Tjakko J., Kaya, Namik

المصدر: Sanderson , L E , Lanko , K , Alsagob , M , Almass , R , Al-Ahmadi , N , Najafi , M , Al-Muhaizea , M A , Alzaidan , H , Aldhalaan , H , Perenthaler , E , Van Der Linde , H C , Nikoncuk , A , Kühn , N A , Antony , D , Owaidah , T M , Raskin , S , Vieira , L G D R , Mombach , R , Ahangari , N , Silveira , T R D , Ameziane , N , Rolfs , A ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/e4916caa-5909-4a69-8c0c-11eb8621c0a0
https://doi.org/10.1093/brain/awaa459
https://pure.eur.nl/ws/files/54169511/awaa459.pdf
http://www.scopus.com/inward/record.url?scp=85104275765&partnerID=8YFLogxK

المؤلفون: Sanderson, Leslie E., Lanko, Kristina, Alsagob, Maysoon, AlMass, Rawan, Al-Ahmady, Nada, Najafi, Maryam, Al-Muhaizea, Mohammad, Alzaidan, Hamad, Aldhalaan, Hesham, Perenthaler, Elena, van der Linde, Herma C., Nikoncuk, Anita, Kuhn, Nikolas, Antony, Dinu, Owaidah, Tarek, Raskin, Salmo, Vieira, Luana, Mombach, Romulo, Ahangari, Najmeh, Silveira, Taina, Ameziane, Najim, Rolfs, Arndt, Alharbi, Aljohara, Sabbagh, Raghda, AlAhmadi, Khalid, Alawam, Bashayer, Ghebeh, Hazem, AlHargan, Aljouhra, Albader, Anoud, Binhumaid, Faisal, Almutairi, Faten, Al-Odaib, Ali, Aksoy, Durdane, Basak, Nazli A., Palvadeau, Robin, Rosenfeld, Jill, Trabzuni, Daniah, Karimiani, Ehsan, Meyer, Brian, Karakac, Bedri, Al-Mohanna, Futwan, Arold, Stefan T., Colak, Dilek, Maroofian, Reza, Houlden, Henry, Bertoli-Avella, Aida, Schmidts, Miriam, Barakat, Tahsin S., van Ham, Tjakko, Kaya, Namik

المساهمون: Bioengineering Program, Bioscience Program, Computational Bioscience Research Center (CBRC), King Abdullah Univ Sci & Technol, Computat Biosci Res Ctr, Thuwal, Saudi Arabia, Structural Biology and Engineering

Relation: SUPPL 1; 304-304; http://hdl.handle.net/10754/679571; 30; WOS:000779367701260

الاتاحة: http://hdl.handle.net/10754/679571

المؤلفون: AlMuhaizea, Mohammed, AlMass, Rawan, AlHargan, Aljouhra, AlBader, Anoud, Medico Salsench, Eva, Howaidi, Jude, Ihinger, Jacie, Karachunski, Peter, Begtrup, Amber, Segura Castell, Monica, Bauer, Peter, Bertoli-Avella, Aida, Kaya, Ibrahim H., AlSufayan, Jumanah, AlQuait, Laila, Chedrawi, Aziza, Arold, Stefan T., Colak, Dilek, Barakat, Tahsin Stefan, Kaya, Namik

المساهمون: King Faisal Specialist Hospital and Research Centre, King Salman Center for Disability Research, King Abdulaziz City for Science and Technology, King Abdullah University of Science and Technology, Netherlands Organization for Scientific Research, Brain and Behavior Research Foundation, Erasmus MC Vriendenfonds

المصدر: Acta Neuropathologica ; volume 139, issue 4, page 791-794 ; ISSN 0001-6322 1432-0533

الاتاحة: http://dx.doi.org/10.1007/s00401-020-02128-8
http://link.springer.com/content/pdf/10.1007/s00401-020-02128-8.pdf
http://link.springer.com/article/10.1007/s00401-020-02128-8/fulltext.html

المؤلفون: AlMuhaizea, Mohammad, Dabbagh, Omar, AlQudairy, Hanan, AlHargan, Aljouhra, Alotaibi, Wafa, Sami, Ruba, AlOtaibi, Rahaf, Ali, Mariam Mahmoud, AlHindi, Hindi, Colak, Dilek, Kaya, Namik

المصدر: Genes; Nov2021, Vol. 12 Issue 11, p1783, 1p

مصطلحات موضوعية: PHENOTYPIC plasticity, NEMALINE myopathy, NEUROMUSCULAR diseases, MUSCLE diseases, MUSCLE weakness, CONSANGUINITY, DYSTROPHY

مصطلحات جغرافية: SAUDI Arabia