-
1
المؤلفون: Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K. Bijlsma, Kristen M. Wigby, Diana Baralle, Mohammad Y.V. Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn Jones, Dmitriy M. Niyazov, Jennifer Jacober, Rebecca Okashah Littlejohn, Denisa Weis, Neda Zadeh, Lance Rodan, Alice Goldenberg, François Lecoquierre, Marina Dutra-Clarke, Gabriella Horvath, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T. Vulto-van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya E. Nasab, A. Gulhan Ercan-Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stephanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C. Taylor, Melody Redman, Alexander P.A. Stegmann, Andreas Laner, Ghada Abdel-Salam, Megan Li, Mario Bengala, Amelie Johanna Müller, Maria C. Digilio, Anita Rauch, Murat Gunel, Hannah Titheradge, Daniela N. Schweitzer, Alison Kraus, Irene Valenzuela, Scott D. McLean, Chanika Phornphutkul, Mustafa Salih, Amber Begtrup, Rhonda E. Schnur, Erin Torti, Tobias B. Haack, Carlos E. Prada, Fowzan S. Alkuraya, Henry Houlden, Reza Maroofian
المساهمون: MUMC+: DA KG Lab Specialisten (9), RS: FHML non-thematic output, Institut Català de la Salut, [Cali E] Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom. [Suri M] Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, United Kingdom. [Scala M] Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy. Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy. [Ferla MP] Genomic Medicine theme, Oxford Biomedical Research Centre, NIHR, Oxford, Oxfordshire, United Kingdom. Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, United Kingdom. [Alavi S] Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom. Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran. Palindrome, Isfahan, Iran. [Faqeih EA] Section of Medical Genetics, Children’s Specialist Hospital, King Fahad Medical, City, Riyadh, Saudi Arabia. [Valenzuela I] Àrea de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: Genetics in Medicine, 25(1), 135-142. Nature Publishing Group
Genetics in Medicine, 25, 1, pp. 135-142
Scientia
Genetics in Medicine, 25, 135-142مصطلحات موضوعية: Neurobiologia del desenvolupament, Discapacitat intel·lectual - Aspectes genètics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Otros calificadores::Otros calificadores::/genética [Otros calificadores], enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enanismo [ENFERMEDADES], trastornos mentales::trastornos del desarrollo neurológico [PSIQUIATRÍA Y PSICOLOGÍA], Nanisme, Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability [DISEASES], All institutes and research themes of the Radboud University Medical Center, Other subheadings::Other subheadings::/genetics [Other subheadings], Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Dwarfism [DISEASES], enfermedades del sistema nervioso::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual [ENFERMEDADES], Genetics (clinical), Mental Disorders::Neurodevelopmental Disorders [PSYCHIATRY AND PSYCHOLOGY]
وصف الملف: application/pdf; image/jpeg; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet; text
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ceace68f22e9fddfec1c6fe140b0167Test
https://cris.maastrichtuniversity.nl/en/publications/81d27084-ec1f-4ef6-a38c-5c73866a5a8eTest -
2
المؤلفون: Noura Eissa, Mona Essawi, Ghada Abdel-Salam, Heba Hassan, Ekram Fateen, Samia Temtamy
المصدر: Middle East Journal of Medical Genetics. 11:1-11
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1e910f622adb867191216b88c9261b50Test
https://doi.org/10.21608/mxe.2023.283877Test -
3
المؤلفون: Shereen G, Ghosh, Sangmoon, Lee, Rudy, Fabunan, Guoliang, Chai, Maha S, Zaki, Ghada, Abdel-Salam, Tipu, Sultan, Tawfeg, Ben-Omran, Javeria Raza, Alvi, Jennifer, McEvoy-Venneri, Valentina, Stanley, Aakash, Patel, Danica, Ross, Jeffrey, Ding, Mohit, Jain, Daqiang, Pan, Philipp, Lübbert, Bernd, Kammerer, Nils, Wiedemann, Nanda M, Verhoeven-Duif, Judith J, Jans, David, Murphy, Mehran Beiraghi, Toosi, Farah, Ashrafzadeh, Shima, Imannezhad, Ehsan Ghayoor, Karimiani, Khalid, Ibrahim, Elizabeth R, Waters, Reza, Maroofian, Joseph G, Gleeson
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(3)
مصطلحات موضوعية: Mice, Knockout, Mice, Phenotype, Animals, Humans, Exons, 4-Hydroxyphenylpyruvate Dioxygenase, Dioxygenases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::e076bdd6aeb8f0c966f219d55e53debaTest
https://pubmed.ncbi.nlm.nih.gov/33188300Test -
4
المؤلفون: Ghada Abdel-Salam
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Survival into adulthood, business.industry, Medicine, Fowler syndrome, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f1e4a331cf8735b84ef16852fd59d52Test
https://doi.org/10.1111/cge.13761/v2/review1Test -
5
المؤلفون: Maha S, Zaki, Gifty, Bhat, Tipu, Sultan, Mahmoud, Issa, Hea-Jin, Jung, Esra, Dikoglu, Laila, Selim, Imam, G Mahmoud, Mohamed S, Abdel-Hamid, Ghada, Abdel-Salam, Isaac, Marin-Valencia, Joseph G, Gleeson
المصدر: Annals of neurology. 80(1)
مصطلحات موضوعية: Male, Adolescent, Genotype, Primary Cell Culture, Mutation, Missense, Gene Expression, Infant, Syndrome, Fibroblasts, Transfection, Article, Failure to Thrive, Young Adult, Phenotype, Codon, Nonsense, Child, Preschool, Microcephaly, Humans, Exome, Female, Genetic Predisposition to Disease, Pyrroline Carboxylate Reductases, Child
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::7e1c63c4b376a9f0d74504bb8e0c9d3aTest
https://pubmed.ncbi.nlm.nih.gov/27130255Test -
6
المؤلفون: Eid, O. M., Eid, M. M., Kamel, A. K., El-Ruby, M., Ghada Abdel-Salam
المصدر: Scopus-Elsevier
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0998761174651168c4c0b3ab54a9e65eTest
http://www.scopus.com/inward/record.url?eid=2-s2.0-84938577570&partnerID=MN8TOARSTest