المؤلفون: Kentab, Amal, Muddathir, H.H., Salih, M.A., Mushiba, Aziza M., Zada, A.P., Bamajboor, Mohammed S., Zameer, Sadique, AlBassam, Fahad, Mahmoud, Adel, Alnawfal, A.A., AlAmr, Mushari, Bawazir, Maryam, Al Rumayyan, Ahmed, Al-Twaijri, Waleed, Alrifai, Muhammed Talal, Al Hajjaj, Sumayah, Saleh, Mohammed M., Hamhom, Abdulrahim M., Al-Otaibi, Ali, AlGhamdi, Malak, Housawi, Yousef, Aljadhai, Yaser I., Alameer, Seham, Almannai, Mohammed, Jad, Lamyaa A., Alwadei, Ali H., Tabassum, Sadia, Alsaman, Abdulaziz, AlAsmari, Ali, Al Mutairi, Fuad, Althiyab, Hamad, Bashiri, Fahad A., AlHumaidi, Suzan, Alfadhel, Majid, Mink, Jonathan W., AlHashim, Aqeela, Faqeih, Eissa A.

المصدر: In Pediatric Neurology June 2024 155:149-155

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: Alsini, Hanin, Alghamdi, Abdulaziz, Alshafi, Shatha, Hundallah, Khalid, Almehmadi, Sameer, Alsowat, Daad, Al-Yamani, Suad, Almuzaini, Hanin, Alwadie, Ali, Al-Otaibi, Ali, Jad, Lamyaa, Almadhi, Asma, Bashiri, Fahad, Kentab, Amal, Hamad, Muddathir H, Baarmah, Duaa, Alrifaie, Mohammed, Almuqbel, Mohammed, Baradie, Raidah Al, Mir, Ali, Jan, Mohammed, Muthaffar, Osama, Aljabri, Mohammed, Ali, Elsayed, Saeed, Mohammed, Matar, Abeer, Tabarki, Brahim

المصدر: In Seizure: European Journal of Epilepsy April 2023 107:146-154

المؤلفون: Khalid, Muhammad Imran, Aldosari, Saeed Abdullah, Alshebeili, Saleh A., Alotaiby, Turky, Al-Hameed, Majed H., Jad, Lamyaa

المصدر: 2015 IEEE International Symposium on Signal Processing and Information Technology (ISSPIT) Signal Processing and Information Technology (ISSPIT), 2015 IEEE International Symposium on. :360-363 Dec, 2015

Relation: 2015 IEEE International Symposium on Signal Processing and Information Technology (ISSPIT)

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المؤلفون: Genetica Klinische Genetica, Brain, Child Health, 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 A A P, 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 A H, 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

URL: https://doi.org/10.1038/s41467-020-14360-7
http://hdl.handle.net/1874/439321
https://dspace.library.uu.nl/handle/1874/439321
http://www.scopus.com/inward/record.url?scp=85078711726&partnerID=8YFLogxK
2041-1723
Nature Communications
11
1
595

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المؤلفون: Saleh MM; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Hamhom AM; Department of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia., Al-Otaibi A; Department of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia., AlGhamdi M; Unit of Medical Genetics, Department of Pediatrics, College of Medicine, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia., Housawi Y; Section of Medical Genetics, Pediatric Department, King Fahad Specialist Hospital, Dammam, Saudi Arabia., Aljadhai YI; Department of Neuroimaging and Intervention, Medical Imaging Administration, King Fahad Medical City, Riyadh, Saudi Arabia., Alameer S; Department of Pediatric, Ministry of the National Guard-Health Affairs, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia., Almannai M; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia., Jad LA; Department of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia., Alwadei AH; Department of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia., Tabassum S; Department of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia., Alsaman A; Department of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia., AlAsmari A; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Al Mutairi F; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia; King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia., Althiyab H; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia., Bashiri FA; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia., AlHumaidi S; Section of Medical Genetics, Children's Hospital, King Saud Medical City, Riyadh, Saudi Arabia., Alfadhel M; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia; King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia; Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia., Mink JW; Department of Neurology, University of Rochester, Rochester, New York., AlHashim A; Department of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia., Faqeih EA; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia. Electronic address: efaqeih@kfmc.med.sa.

مؤلفون مشاركون: Saudi NCL Study Consortium

المصدر: Pediatric neurology [Pediatr Neurol] 2024 Jun; Vol. 155, pp. 149-155. Date of Electronic Publication: 2024 Mar 07.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Neuronal Ceroid-Lipofuscinoses*/genetics , Neuronal Ceroid-Lipofuscinoses*/physiopathology , Neuronal Ceroid-Lipofuscinoses*/diagnosis , Tripeptidyl-Peptidase 1*, Humans ; Saudi Arabia ; Male ; Female ; Child ; Child, Preschool ; Retrospective Studies ; Adolescent ; Membrane Proteins/genetics ; Infant ; Dipeptidyl-Peptidases and Tripeptidyl-Peptidases/genetics ; Young Adult ; Magnetic Resonance Imaging