المؤلفون: Simo Li, Sanami Takada, Ghada M. H. Abdel-Salam, Mohamed S. Abdel-Hamid, Maha S. Zaki, Mahmoud Y. Issa, Aida M. S. Salem, Eriko Koshimizu, Atsushi Fujita, Ryoko Fukai, Toshio Ohshima, Naomichi Matsumoto, Noriko Miyake

المصدر: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/78ad9cb14b8248b387af6b361cbefd48

المؤلفون: Ghada M. H. Abdel-Salam, Susanne Hellmuth, Elise Gradhand, Stephan Käseberg, Jennifer Winter, Ann-Sophie Pabst, Maha M. Eid, Holger Thiele, Peter Nürnberg, Birgit S. Budde, Mohammad Reza Toliat, Ines B. Brecht, Christopher Schroeder, Axel Gschwind, Stephan Ossowski, Friederike Häuser, Heidi Rossmann, Mohamed S. Abdel-Hamid, Ibrahim Hegazy, Ahmed G. Mohamed, Dominik T. Schneider, Aida Bertoli-Avella, Peter Bauer, Jillian N. Pearring, Rolph Pfundt, Alexander Hoischen, Christian Gilissen, Dennis Strand, Ulrich Zechner, Soha A. Tashkandi, Eissa A. Faqeih, Olaf Stemmann, Susanne Strand, Hanno J. Bolz

المصدر: JCI Insight, Vol 8, Iss 22 (2023)

مصطلحات موضوعية: Genetics, Oncology, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2379-3708

URL الوصول: https://doaj.org/article/c2f7dbb684e54ea28e6d06a849f00507

المؤلفون: Jo M Vanoevelen, Jörgen Bierau, Janine C Grashorn, Ellen Lambrichs, Erik-Jan Kamsteeg, Levinus A Bok, Ron A Wevers, Marjo S van der Knaap, Marianna Bugiani, Junmei Hu Frisk, Rita Colnaghi, Mark O'Driscoll, Debby M E I Hellebrekers, Richard Rodenburg, Carlos R Ferreira, Han G Brunner, Arthur van den Wijngaard, Ghada M H Abdel-Salam, Liya Wang, Constance T R M Stumpel

مصطلحات موضوعية: DTYMK, Genome instability, Nucleotide metabolism, Zebrafish, dTMPK

Relation: 10779/uos.23486570.v1; https://figshare.com/articles/journal_contribution/DTYMK_is_essential_for_genome_integrity_and_neuronal_survival/23486570

الاتاحة: https://figshare.com/articles/journal_contribution/DTYMK_is_essential_for_genome_integrity_and_neuronal_survival/23486570

المؤلفون: Amal M. Mohamed, Alaa K. Kamel, Maha M. Eid, Ola M. Eid, Mona Mekkawy, Shymaa H. Hussein, Maha S. Zaki, Samira Esmail, Hanan H. Afifi, Ghada Y. El‐Kamah, Ghada A. Otaify, Heba Ahmed El‐Awady, Aya Elaidy, Mahmoud Y. Essa, Mona El‐Ruby, Engy A. Ashaat, Saida A. Hammad, Inas Mazen, Ghada M. H. Abdel‐Salam, Mona Aglan, Samia Temtamy

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)

مصطلحات موضوعية: 9p deletion, ambiguous genitalia, autism, brain anomalies, trigonocephaly, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/2bfe665e28c74ca3b3ab3b493e122b7b

المؤلفون: Sateesh Maddirevula, Hanan E. Shamseldin, Amy Sirr, Lama AlAbdi, Russell S. Lo, Nour Ewida, Mashael Al-Qahtani, Mais Hashem, Firdous Abdulwahab, Omar Aboyousef, Namik Kaya, Dorota Monies, May H. Salem, Naffaa Al Harbi, Hesham M. Aldhalaan, Hamad Alzaidan, Hadeel M. Almanea, Abrar K. Alsalamah, Fuad Al Mutairi, Samira Ismail, Ghada M. H. Abdel-Salam, Amal Alhashem, Ali Asery, Eissa Faqeih, Amal AlQassmi, Waleed Al-Hamoudi, Talal Algoufi, Mohammad Shagrani, Aimée M. Dudley, Fowzan S. Alkuraya

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: autozygosity, diabetes, yeast, founder mutation, disease-gene associations, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2020.580484/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/8026d6a81f114abd81353e1d7d0b55e7

المؤلفون: Ghada M. H. Abdel‐Salam, Mohamed S. Abdel‐Hamid

المصدر: Clinical Genetics.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4b168e80f6fa694c8886f835d4119ff7
https://doi.org/10.1111/cge.14357

المؤلفون: Ghada A. Otaify, Rasha M. Elhossini, Sherif F. Abdel‐Ghafar, Inas M. Sayed, Ghada M. H. Abdel‐Salam, Mona S. Aglan, Mohamed S. Abdel‐Hamid

المصدر: American Journal of Medical Genetics Part A.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7e3fa57f93748c9d68a11cc5e5f3ef2d
https://doi.org/10.1002/ajmg.a.63246

المؤلفون: Ghada M. H. Abdel-Salam, Hanan H. Afifi, Mohamed S. Abdel-Hamid, Nermeen E. B. Ahmed, Mohamed B. Taher, Ghada El-Kamah, Holger Thiele, Peter N. Nürnberg, Hanno J. Bolz

المصدر: Journal of Human Genetics.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1b778ab070cb00fbf0376671d8351815
https://doi.org/10.1038/s10038-023-01152-2

المؤلفون: Shalini N. Jhangiani, Ziad Khan, Richard A. Gibbs, Mohamed Abdelhamid, Inas S. M. Sayed, James R. Lupski, Dana Marafi, Jennifer E. Posey, Ghada M H Abdel-Salam, Haowei Du, Ruizhi Duan

المصدر: American Journal of Medical Genetics Part A. 188:648-657

مصطلحات موضوعية: Genetics, Nonsense-mediated decay, Biology, medicine.disease, Microphthalmia, Phenotype, Stop codon, Neurodevelopmental disorder, medicine, Allele, Kinase activity, Exome, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::17c600588af1e1e76eb79b6da5a57639
https://doi.org/10.1002/ajmg.a.62561

المؤلفون: Christian Casar, Maja Hempel, Frederike L. Harms, Pauline E. Schneeberger, Kerstin Kutsche, Malik Alawi, Maha S. Zaki, Minyue Qi, Xiaoxu Yang, Valentina Stanley, Leonie von Elsner, Ghada M H Abdel-Salam, Joseph G. Gleeson, Guoliang Chai, Florian Arndt

المصدر: Brain
Brain : a journal of neurology, vol 145, iss 4

مصطلحات موضوعية: Microcephaly, Spliceosome, Intellectual and Developmental Disabilities (IDD), Biology, homozygous, Medical and Health Sciences, Conserved sequence, splicing, Rare Diseases, Clinical Research, Transcription (biology), Intellectual Disability, Genetics, medicine, 2.1 Biological and endogenous factors, Humans, splice, Aetiology, Growth Disorders, Alleles, Exome sequencing, Neurology & Neurosurgery, Psychology and Cognitive Sciences, Neurosciences, Membrane Proteins, Nuclear Proteins, RNA-Binding Proteins, Syndrome, medicine.disease, Brain Disorders, DNA-Binding Proteins, Repressor Proteins, major spliceosome, Neurodevelopmental Disorders, RNA splicing, Original Article, RNA Splice Sites, Neurology (clinical), exome sequencing, Nuclear localization sequence

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::350ca219682e6eeb73fbde16905f38ac
https://doi.org/10.1093/brain/awab403

المؤلفون: Sahar Sabry, Sara H. El‐Dessouky, Sherif F. Abdel‐Ghafar, Ghada M H Abdel-Salam, Mohamed Abdelhamid

المصدر: neurogenetics. 22:287-295

مصطلحات موضوعية: Genetics, Microcephaly, Cerebellar ataxia, Genetic disorder, Biology, medicine.disease, Phenotype, Human genetics, Frameshift mutation, Cellular and Molecular Neuroscience, Genotype, medicine, Missense mutation, medicine.symptom, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ac05db8507db849d172a1dc1f0289b70
https://doi.org/10.1007/s10048-021-00665-2

المؤلفون: Judith J.M. Jans, Jeffrey Ding, Rudy Fabunan, Khalid Ibrahim, Shereen G. Ghosh, Valentina Stanley, Tawfeg Ben-Omran, Joseph G. Gleeson, David Murphy, Sangmoon Lee, Nils Wiedemann, Mohit Jain, Ehsan Ghayoor Karimiani, Aakash Patel, Shima Imannezhad, Elizabeth R. Waters, Javeria Raza Alvi, Maha S. Zaki, Daqiang Pan, Mehran Beiraghi Toosi, Philipp Lübbert, Bernd Kammerer, Farah Ashrafzadeh, Jennifer McEvoy-Venneri, Ghada M H Abdel-Salam, Nanda M. Verhoeven-Duif, Tipu Sultan, Danica Ross, Reza Maroofian, Guoliang Chai

المصدر: Genetics in Medicine. 23:524-533

مصطلحات موضوعية: 0301 basic medicine, chemistry.chemical_classification, 030105 genetics & heredity, Biology, Cell biology, 03 medical and health sciences, Metabolic pathway, 030104 developmental biology, Enzyme, chemistry, Dioxygenase, Knockout mouse, Tyrosine, Gene, Genetics (clinical), 4-Hydroxyphenylpyruvate dioxygenase, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::59ec7e7a57c83f28d36716ba9dad8563
https://doi.org/10.1038/s41436-020-01010-y

المؤلفون: Mohamed Abdelhamid, Ghada M H Abdel-Salam

المصدر: Neuropediatrics. 52:201-207

مصطلحات موضوعية: 0301 basic medicine, Microcephaly, Pathology, medicine.medical_specialty, Congenital microcephaly, 03 medical and health sciences, Exon, 0302 clinical medicine, medicine, Humans, Missense mutation, Molybdenum cofactor deficiency, Exome sequencing, Metal Metabolism, Inborn Errors, business.industry, Infant, Newborn, ASPARAGINE SYNTHETASE DEFICIENCY, Aspartate-Ammonia Ligase, General Medicine, medicine.disease, Pons, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, Intracranial Hemorrhages, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09f1b7b4bc8df0d6d871145f8cb2b475
https://doi.org/10.1055/s-0040-1718917

المؤلفون: Hala T. El-Bassyouni, Lobna Mansour, Ekram Fateen, Khalda Amr, Angie M.S. Tosson, Ghada M H Abdel Salam, Ahmed Nabil Mohamed, Maha S. Zaki

المصدر: Journal of Molecular Neuroscience. 71:1112-1130

مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, education.field_of_study, Arylsulfatase A, Population, Prenatal diagnosis, General Medicine, Biology, medicine.disease, medicine.disease_cause, Genetic analysis, Metachromatic leukodystrophy, 03 medical and health sciences, Cellular and Molecular Neuroscience, 030104 developmental biology, 0302 clinical medicine, medicine, Missense mutation, education, Gene, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0ef41e903b93fa8969ffc6b002a5a4a1
https://doi.org/10.1007/s12031-020-01734-1

المؤلفون: Inas S. M. Sayed, Mohamed S. Abdel-Hamid, Ghada M H Abdel-Salam

المصدر: American Journal of Medical Genetics Part A. 182:1309-1312

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, 030105 genetics & heredity, medicine.disease, Dermatology, Short stature, Desquamative gingivitis, 03 medical and health sciences, 030104 developmental biology, medicine.anatomical_structure, stomatognathic system, Macrodontia (tooth), Intellectual disability, Genetics, medicine, Deciduous teeth, Noonan syndrome, Maxillary central incisor, medicine.symptom, business, Genetics (clinical), Anterior teeth

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::47ca57d7d6a18d1b5379245087e1e9d9
https://doi.org/10.1002/ajmg.a.61552

المؤلفون: Ghada M. H. Abdel-Salam, Marian Girgis, Maha M. Eid, Inas S. M. Sayed, Mohamed S. Abdel-Hamid

المصدر: Journal of human genetics. 67(11)

مصطلحات موضوعية: Cerebellum, Developmental Disabilities, Genetics, Microcephaly, Animals, Child, Nervous System Malformations, Lissencephaly, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::111b3bf22ac9ff3e2db651a7e4118ad8
https://pubmed.ncbi.nlm.nih.gov/35896821

المؤلفون: Mohammed Almannai, Dana Marafi, Ghada M. H. Abdel‐Salam, Maha S. Zaki, Ruizhi Duan, Daniel Calame, Isabella Herman, Felix Levesque, Hasnaa M. Elbendary, Ibrahim Hegazy, Wendy K. Chung, Haluk Kavus, Kolsoum Saeidi, Reza Maroofian, Aqeela AlHashim, Ali Al‐Otaibi, Asma Al Madhi, Hager M. Abou Al‐Seood, Ali Alasmari, Henry Houlden, Joseph G. Gleeson, Jill V. Hunter, Jennifer E. Posey, James R. Lupski, Ayman W. El‐Hattab

المصدر: Clin Genet

مصطلحات موضوعية: Homozygote, Nervous System Malformations, Quadriplegia, Article, Pedigree, Bone Diseases, Metabolic, Congenital Disorders of Glycosylation, Phenotype, Seizures, Genetics, Microcephaly, Humans, Atrophy, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ce2bb7aa6264f426cdda2b8a491b72e
https://pubmed.ncbi.nlm.nih.gov/35322404

المؤلفون: Erik Rosenhahn, Thomas J O'Brien, Maha S Zaki, Ina Sorge, Dagmar Wieczorek, Kevin Rostasy, Antonio Vitobello, Sophie Nambot, Fowzan S Alkuraya, Mais O Hashem, Amal Alhashem, Brahim Tabarki, Abdullah S Alamri, Ayat H Al Safar, Dalal K Bubshait, Nada F Alahmady, Joseph G Gleeson, Mohamed S Abdel-Hamid, Nicole Lesko, Sofia Ygberg, Sandrina P Correia, Anna Wredenberg, Shahryar Alavi, Seyed M Seyedhassani, Mahya Ebrahimi Nasab, Haytham Hussien, Tarek E I Omar, Ines Harzallah, Renaud Touraine, Homa Tajsharghi, Heba Morsy, Henry Houlden, Mohammad Shahrooei, Maryam Ghavideldarestani, Ghada M H Abdel-Salam, Annalaura Torella, Mariateresa Zanobio, Gaetano Terrone, Nicola Brunetti-Pierri, Abdolmajid Omrani, Julia Hentschel, Johannes R Lemke, Heinrich Sticht, Rami Abou Jamra, Andre E X Brown, Reza Maroofian, Konrad Platzer

المساهمون: Rosenhahn, Erik, J O'Brien, Thoma, S Zaki, Maha, Sorge, Ina, Wieczorek, Dagmar, Rostasy, Kevin, Vitobello, Antonio, Nambot, Sophie, S Alkuraya, Fowzan, O Hashem, Mai, Alhashem, Amal, Tabarki, Brahim, S Alamri, Abdullah, H Al Safar, Ayat, K Bubshait, Dalal, F Alahmady, Nada, G Gleeson, Joseph, S Abdel-Hamid, Mohamed, Lesko, Nicole, Ygberg, Sofia, P Correia, Sandrina, Wredenberg, Anna, Alavi, Shahryar, M Seyedhassani, Seyed, Ebrahimi Nasab, Mahya, Hussien, Haytham, I Omar, Tarek E, Harzallah, Ine, Touraine, Renaud, Tajsharghi, Homa, Morsy, Heba, Houlden, Henry, Shahrooei, Mohammad, Ghavideldarestani, Maryam, H Abdel-Salam, Ghada M, Torella, Annalaura, Zanobio, Mariateresa, Terrone, Gaetano, Brunetti-Pierri, Nicola, Omrani, Abdolmajid, Hentschel, Julia, R Lemke, Johanne, Sticht, Heinrich, Abou Jamra, Rami, X Brown, Andre E, Maroofian, Reza, Platzer, Konrad

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000850681500006; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11588/890533; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85135598374

الاتاحة: http://hdl.handle.net/11588/890533
https://doi.org/10.1016/j.ajhg.2022.06.008

المؤلفون: Jo M. Vanoevelen, Jörgen Bierau, Janine C. Grashorn, Ellen Lambrichs, Erik-Jan Kamsteeg, Levinus A. Bok, Ron A. Wevers, Marjo S. van der Knaap, Marianna Bugiani, Junmei Hu Frisk, Rita Colnaghi, Mark O’Driscoll, Debby M. E. I. Hellebrekers, Richard Rodenburg, Carlos R. Ferreira, Han G. Brunner, Arthur van den Wijngaard, Ghada M. H. Abdel-Salam, Liya Wang, Constance T. R. M. Stumpel

المساهمون: Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Pathology, Amsterdam Neuroscience - Complex Trait Genetics, RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, MUMC+: DA KG Lab Centraal Lab (9), MUMC+: DA Klinische Genetica (5), MUMC+: DA KG Polikliniek (9), RS: MHeNs - R3 - Neuroscience

المصدر: Acta Neuropathologica, 143(2), 245-262. Springer Verlag
Acta Neuropathologica, 143, 2, pp. 245-262
Acta Neuropathologica, 143, 245-262
Vanoevelen, J M, Bierau, J R, Grashorn, J C, Lambrichs, E, Kamsteeg, E-J, Bok, L A, Wevers, R A, van der Knaap, M S, Bugiani, M, Frisk, J H, Colnaghi, R, O’Driscoll, M, Hellebrekers, D M E I, Rodenburg, R, Ferreira, C R, Brunner, H G, van den Wijngaard, A, Abdel-Salam, G M H, Wang, L & Stumpel, C T R M 2022, ' DTYMK is essential for genome integrity and neuronal survival ', Acta Neuropathologica, vol. 143, no. 2, pp. 245-262 . https://doi.org/10.1007/s00401-021-02394-0
Acta Neuropathologica, 143(2), 245-262. Springer, Cham
Acta Neuropathologica

مصطلحات موضوعية: Male, Genome instability, Nucleotide metabolism, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, THYMIDINE KINASE, AICARDI-GOUTIERES-SYNDROME, RIBONUCLEOTIDES, Animals, Humans, CAD, Zebrafish, Original Paper, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], MUTATIONS, Neurodegenerative Diseases, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], DTYMK, Neurology, POOLS, Mutation, Microcephaly, Female, dTMPK, Neurology (clinical), Nucleoside-Phosphate Kinase, Medical Genetics

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08cbd065e18192d0f5b5094c316c2f74
https://research.vumc.nl/en/publications/967a533e-3190-4119-814a-ebf8e8739321

المؤلفون: Ghada M H, Abdel-Salam, Hanan H, Afifi, Sahar N, Saleem, Mohamed I, Gadelhak, Manar A, El-Serafy, Inas S M, Sayed, Mohamed S, Abdel-Hamid

المصدر: Mol Syndromol

مصطلحات موضوعية: Original Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::ef80bd3fb5627afa4bfefb5731aabd79
https://pubmed.ncbi.nlm.nih.gov/36588752