المؤلفون: Monies, Dorota, Abouelhoda, Mohamed, AlSayed, Moeenaldeen, Alhassnan, Zuhair, Alotaibi, Maha, Kayyali, Husam, Al-Owain, Mohammed, Shah, Ayaz, Rahbeeni, Zuhair, Al-Muhaizea, Mohammad A., Alzaidan, Hamad I., Cupler, Edward, Bohlega, Saeed, Faqeih, Eissa, Faden, Maha, Alyounes, Banan, Jaroudi, Dyala, Goljan, Ewa, Elbardisy, Hadeel, Akilan, Asma, Albar, Renad, Aldhalaan, Hesham, Gulab, Shamshad, Chedrawi, Aziza, Al Saud, Bandar K, Kurdi, Wesam, Makhseed, Nawal, Alqasim, Tahani, El Khashab, Heba Y., Al-Mousa, Hamoud, Alhashem, Amal, Kanaan, Imaduddin, Algoufi, Talal, Alsaleem, Khalid, Basha, Talal A., Al-Murshedi, Fathiya, Khan, Sameena, Al-Kindy, Adila, Alnemer, Maha, Al-Hajjar, Sami, Alyamani, Suad, Aldhekri, Hasan, Al-Mehaidib, Ali, Arnaout, Rand, Dabbagh, Omar, Shagrani, Mohammad, Broering, Dieter, Tulbah, Maha, Alqassmi, Amal, Almugbel, Maisoon, AlQuaiz, Mohammed, Alsaman, Abdulaziz, Al-Thihli, Khalid, Sulaiman, Raashda A., Al-Dekhail, Wajeeh, Alsaegh, Abeer, Bashiri, Fahad A., Qari, Alya, Alhomadi, Suzan, Alkuraya, Hisham, Alsebayel, Mohammed, Hamad, Muddathir H, Szonyi, Laszlo, Abaalkhail, Faisal, Al-Mayouf, Sulaiman M., Almojalli, Hamad, Alqadi, Khalid S., Elsiesy, Hussien, Shuaib, Taghreed M., Seidahmed, Mohammed Zain, Abosoudah, Ibraheem, Akleh, Hana, AlGhonaium, Abdulaziz, Alkharfy, Turki M., Al Mutairi, Fuad, Eyaid, Wafa, Alshanbary, Abdullah, Sheikh, Farrukh R., Alsohaibani, Fahad I., Alsonbul, Abdullah, Al Tala, Saeed, Balkhy, Soher, Bassiouni, Randa, Alenizi, Ahmed S., Hussein, Maged H., Hassan, Saeed, Khalil, Mohamed, Tabarki, Brahim, Alshahwan, Saad, Oshi, Amira, Sabr, Yasser, Alsaadoun, Saad, Salih, Mustafa A., Mohamed, Sarar, Sultana, Habiba, Tamim, Abdullah, El-Haj, Moayad, Alshahrani, Saif, Bubshait, Dalal K., Alfadhel, Majid, Faquih, Tariq, El-Kalioby, Mohamed, Subhani, Shazia, Shah, Zeeshan, Moghrabi, Nabil, Meyer, Brian F., Alkuraya, Fowzan S.

المصدر: Human Genetics. August 2017 136(8):921-939

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Al-Muhsen, Saleh, Al-Numair, Nouf S., Saheb Sharif-Askari, Narjes, Basamh, Roaa, Alyounes, Banan, Jabaan, Amjad, Saheb Sharif-Askari, Fatemeh, Alosaimi, Mohammed F., Alsohime, Fahad, Halwani, Rabih, Al-Saud, Haya

المصدر: Frontiers in Medicine. 9

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd689cf76ece0023a60c3a68d891bc02
https://doi.org/10.3389/fmed.2022.826247

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 , Alharbi , A , Sabbagh , R M , Alahmadi , K , Alawam , B , Ghebeh , H , Alhargan , A , Albader , A A , Binhumaid , F S , Goljan , E , Monies , D , Mustafa , O M , Aldosary , M , Albakheet , A , Alyounes , B , Almutairi , F , Al-Odaib , A , Aksoy , D B , Basak , A N , Palvadeau , R , Trabzuni , D , Rosenfeld , J A , Karimiani , E G , Meyer , B F , Karakas , B , Al-Mohanna , F , Arold , S T , Colak , D , Maroofian , R , Houlden , H , Bertoli-Avella , A M , Schmidts , M , Barakat , T S , Van Ham , T J & Kaya , N 2021 , ' Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking ' , Brain , vol. 144 , no. 3 , pp. 769-780 .

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

URL: https://pure.eur.nl/en/publications/e4916caa-5909-4a69-8c0c-11eb8621c0a0

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Al-Numair, Nouf S., Alyounes, Banan, Al-Saud, Haya, Halwani, Rabih, Al-Muhsen, Saleh

المصدر: Saudi Journal of Biological Sciences; Jul2022, Vol. 29 Issue 7, pN.PAG-N.PAG, 1p

المؤلفون: Sanderson LE; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., Lanko K; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., Alsagob M; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; KACST-BWH/Harvard Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia., Almass R; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Al-Ahmadi N; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Department of Biology, Imam Abdulrahman bin Faisal University, Dammam 34212, Kingdom of Saudi Arabia., Najafi M; Genome Research Division, Human Genetics Department, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, Nijmegen, The Netherlands.; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University, Faculty of Medicine, Freiburg 79106, Germany., Al-Muhaizea MA; Department of Neurosciences, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., Alzaidan H; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., AlDhalaan H; Department of Neurosciences, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., Perenthaler E; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., van der Linde HC; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., Nikoncuk A; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., Kühn NA; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., Antony D; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University, Faculty of Medicine, Freiburg 79106, Germany., Owaidah TM; Department of Pathology and Laboratory Medicine, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., Raskin S; Positivo University Medical School, Curitiba, Parana, 81280-330, Brazil., Vieira LGDR; Universidade da Região de Joinville, Pós-Graduação em Saúde e Meio Ambiente, Joinville, Santa Catarina, 89219-710., Mombach R; Núcleo de Assistência Integral ao Paciente Especial, Prefeitura de Joinvile, Joinvile, Santa Catarina, 89202-450, Brazil., Ahangari N; Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, 9177899191, Mashhad, Iran., Silveira TRD; CENTOGENE GmbH, 18055 Rostock., Ameziane N; CENTOGENE GmbH, 18055 Rostock., Rolfs A; CENTOGENE GmbH, 18055 Rostock.; Medical University of Rostock, 18051 Rostock., Alharbi A; Department of Pathology and Laboratory Medicine, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., Sabbagh RM; Department of Pathology and Laboratory Medicine, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., AlAhmadi K; Department of Neurosciences, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., Alawam B; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Ghebeh H; Stem Cell and Tissue Re-engineering Program, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., AlHargan A; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Albader AA; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Binhumaid FS; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Goljan E; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Monies D; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Mustafa OM; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Aldosary M; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., AlBakheet A; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Alyounes B; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Almutairi F; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Al-Odaib A; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia., Aksoy DB; Gaziosmanpasa University, School of Medicine, Neurology Dept. Tokat, 8FJH+CW Tokat, Merkez/Tokat, Turkey., Basak AN; Koc University, School of Medicine, Suna and Inan Kirac Foundation, NDAL- KUTTAM, Davutpasa cad. No.4, 34010, Zeytinburnu, İstanbul, Turkey., Palvadeau R; Koc University, School of Medicine, Suna and Inan Kirac Foundation, NDAL- KUTTAM, Davutpasa cad. No.4, 34010, Zeytinburnu, İstanbul, Turkey., Trabzuni D; Department of Molecular Neuroscience, University College London Institute of Neurology, London WC1N 3BG, UK., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, and Baylor Genetics Laboratories, Houston, TX, USA., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London SW17 0RE, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, 9G58 + 69 Mashhad, Razavi Khorasan Province, Iran., Meyer BF; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Kingdom of Saudi Arabia.; Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211, Riyadh, Kingdom of Saudi Arabia., Karakas B; Department of Molecular Oncology, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., Al-Mohanna F; Department of Cell Biology, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., Arold ST; Division of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Kingdom of Saudi Arabia.; Centre de Biochimie Structurale, CNRS, INSERM, Université de Montpellier, 34090 Montpellier, France., Colak D; Department of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Bertoli-Avella AM; CENTOGENE GmbH, 18055 Rostock., Schmidts M; Genome Research Division, Human Genetics Department, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, Nijmegen, The Netherlands.; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University, Faculty of Medicine, Freiburg 79106, Germany., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., van Ham TJ; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., Kaya N; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211, Riyadh, Kingdom of Saudi Arabia.

المصدر: Brain : a journal of neurology [Brain] 2021 Apr 12; Vol. 144 (3), pp. 769-780.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Cerebellar Ataxia/*genetics , Genetic Predisposition to Disease/*genetics , Neurodevelopmental Disorders/*genetics , Protein Transport/*genetics , Vesicular Transport Proteins/*genetics, Adolescent ; Adult ; Animals ; Child ; Child, Preschool ; Female ; Genetic Variation ; Humans ; Male ; Pedigree ; Young Adult ; Zebrafish