المؤلفون: Min Gao, Yunjia Chen, Pongtawat Lertwilaiwittaya, Anna Hurst, Ali Al-Beshri, Andrew Carroll, Fady Mikhail

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101640- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424007866; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/2520512b6e094ae4978e0ffaa31cad73

المؤلفون: Yunjia Chen, Ender Karaca, Nathaniel Robin, Dana Goodloe, Ali Al-Beshri, S. Joy Dean, Anna Hurst, Andrew Carroll, Fady Mikhail

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100487- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423004879; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/04d79fbf72d44419b154ce328890d0a9

المؤلفون: Muhammad Aamir, Muhammad Irfan, Tariq Ali, Ghulam Ali, Ahmad Shaf, Alqahtani Saeed S, Ali Al-Beshri, Tariq Alasbali, Mater H. Mahnashi

المصدر: Diagnostics, Vol 10, Iss 8, p 602 (2020)

مصطلحات موضوعية: ML-DCNN, glaucoma deep-learning, computer vision, convolutional neural network, glaucoma eye disease, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-4418/10/8/602; https://doaj.org/toc/2075-4418

URL الوصول: https://doaj.org/article/c24ed26ba8684ae9b88e2ff408e166b5

المؤلفون: Merai Alshehri, Ali Al Beshri, Dania Bamefleh

المصدر: Cureus.

مصطلحات موضوعية: General Engineering

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3fed044eb2244c8179f2e894cb0e9a9a
https://doi.org/10.7759/cureus.36303

المؤلفون: Rawan Al-Rawi, Fady M. Mikhail, Kenneth McCormick, Ali Al-Beshri

المصدر: Calcified Tissue International. 106:567-573

مصطلحات موضوعية: 0301 basic medicine, Ubiquitin-Protein Ligases, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, SMAD, Bone morphogenetic protein, Fractures, Bone, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Ubiquitin, Bone Density, Gene Duplication, Gene duplication, medicine, Humans, Orthopedics and Sports Medicine, Child, Gene, Chromosome 7 (human), Comparative Genomic Hybridization, biology, medicine.disease, Phenotype, Molecular biology, Lymphoma, biology.protein, Osteoporosis, Female, 030101 anatomy & morphology, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbbd7c8a77c839c775e3cd86692f5461
https://doi.org/10.1007/s00223-020-00668-5

المؤلفون: Amanda Balog, Jie Liu, Jesse Slone, Katrina Haude, Taosheng Huang, Jenice Brown, Meghan Bromwell, Teresa Campbell, Renkui Bai, Li Yang, Weiwei Zou, Xiaoting Lou, Hong Cui, Ali Al-Beshri

المصدر: Human mutationREFERENCES. 42(2)

مصطلحات موضوعية: Mitochondrial DNA, RNA, Transfer, Leu, Mitochondrial translation, Mitochondrial disease, Cardiomyopathy, Exercise intolerance, Biology, Mitochondrion, DNA, Mitochondrial, 03 medical and health sciences, Mitochondrial myopathy, Risk Factors, Genetics, medicine, Humans, Child, Genetics (clinical), 030304 developmental biology, 0303 health sciences, 030305 genetics & heredity, Mitochondrial Myopathies, medicine.disease, Penetrance, Genome, Mitochondrial, Mutation, medicine.symptom, Cardiomyopathies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d148f47e687022f7a047f23548b2c505
https://pubmed.ncbi.nlm.nih.gov/33259687

المؤلفون: Amy McTague, Siddharth Srivastava, Tamison Jewett, Ali Al-Beshri, Constance Smith-Hicks, Shelagh Joss, Jennifer A. Sullivan, Sarju G. Mehta, Koenraad Devriendt, Pascal Joset, Laurence Faivre, Emma Kivuva, William G. Wilson, Gunnar Houge, Naama Orenstein, Yana Hoorne, Vickie L. Hannig, Malou Heijligers, Bart Loeys, Vandana Shashi, Katrina Prescott, Iris Verbinnen, Annick Toutain, Lauren M. Baldwin, Stephen P. Fulton, Katharina Steindl, Anne Marie Childs, Anna Chassevent, Shelley Towner, Cornelia Daumer-Haas, Oded Wechsberg, Alison Male, Hannah F. Johnson, Wendy K. Chung, Anita Rauch, Anna Ruiz, Isabelle Maystadt, Sara Reynhout, Sébastien Moutton, Yvette van Ierland, Veerle Janssens, Frédéric Laumonnier, Martina Baethmann, Lisa Lenaerts, Vani Jain, Vinod Varghese, Suzanne M. Koudijs, Elisabeth Gabau, Frédérique Bonnet-Brilhault, Rizwan Hamid, Susan E. Holder, Barbara Plecko

المساهمون: MUMC+: MA Med Staf Spec Neurologie (9), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique [Tours], Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Queen Elizabeth University Hospital (Glasgow), Kennedy Krieger Institute [Baltimore], University of Antwerp (UA), Universität Zürich [Zürich] = University of Zurich (UZH), Addenbrooke’s Hospital [Cambridge, UK], Columbia University Medical Center (CUMC), Columbia University [New York], North West Thames Regional Genetics Service [London, UK] (Harrow), North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow-Northwick Park Hospital [Harrow, UK] (NPH), Wake Forest University, University of Virginia [Charlottesville], Boston Children's Hospital, Prenatal Medicine Munich [Munich, Germany] (PMM), Klinikum Dritter Orden [Munich], Universitat Autònoma de Barcelona (UAB), University Hospital of Wales [Cardiff, UK], University of Alabama at Birmingham [ Birmingham] (UAB), Le Bonheur Children's Hospital [Memphis, TN, USA] (LBCH), Schneider Children’s Medical Center of Israel [Petah Tikva], Sackler Faculty of Medicine, Tel Aviv University [Tel Aviv], Leeds Teaching Hospitals NHS Trust, Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), Maison de Santé Protestante de Bordeaux-Bagatelle (MSPB), Duke University Medical Center, Maastricht University Medical Centre (MUMC), Maastricht University [Maastricht], Royal Devon and Exeter NHS Foundation Trust [UK], Great Ormond Street Institute of Child Health [London, UK] (UCL), University College of London [London] (UCL), Erasmus University Medical Center [Rotterdam] (Erasmus MC), Medical University Graz, Institut de Pathologie et Génétique [Gosselies] (I.P.G.), Vanderbilt University Medical Center [Nashville], Vanderbilt University [Nashville], Haukeland University Hospital, University of Bergen (UiB), Leuven Brain Institute [Leuven, Belgium] (LBI), Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Clinical Genetics, University of Virginia, University Hospital of Wales (UHW), Tel Aviv University (TAU), Great Ormond Street Institute of Child Health (UCL), Laumonnier, Frédéric

المصدر: Genetics in Medicine, 23(2), 352-362. Nature Publishing Group
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in Medicine, 23(2), 352-362. Lippincott Williams & Wilkins
Genetics in Medicine, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in medicine

مصطلحات موضوعية: 0301 basic medicine, Microcephaly, [SDV]Life Sciences [q-bio], Intellectual disability, 030105 genetics & heredity, Bioinformatics, Epilepsy, Neurodevelopmental disorder, CORE, Protein Phosphatase 2, SPECIFICITY, Genetics (clinical), PROTEIN PHOSPHATASE 2A, Phenotype, Hypotonia, FAMILY, 3. Good health, PP2A, [SDV] Life Sciences [q-bio], PPP2R1A, PPP2R5D, INSIGHTS, intellectual disability, Muscle Hypotonia, medicine.symptom, Language delay, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Article, 03 medical and health sciences, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, medicine, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, business.industry, Macrocephaly, DEPHOSPHORYLATION, medicine.disease, neurodevelopmental disorder, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurodevelopmental Disorders, SUBUNIT, epilepsy, Human medicine, TAU, business, Transcription Factors

وصف الملف: application/pdf; Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1563bdcdf43463d5995297a78f9c2f2
https://ddd.uab.cat/record/238621

المؤلفون: Mater H. Mahnashi, Muhammad Irfan, Ahmad Shaf, Tariq Ali, Muhammad Aamir, Alqahtani Saeed S, Tariq Alasbali, Ali Al-Beshri, Ghulam Ali

المصدر: Diagnostics, Vol 10, Iss 602, p 602 (2020)
Diagnostics
Volume 10
Issue 8

مصطلحات موضوعية: glaucoma eye disease, glaucoma deep-learning, genetic structures, Computer science, Eye disease, Clinical Biochemistry, convolutional neural network, Glaucoma, Equalizer, 02 engineering and technology, Fundus (eye), Convolutional neural network, Article, computer vision, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Histogram, 0202 electrical engineering, electronic engineering, information engineering, medicine, ML-DCNN, lcsh:R5-920, business.industry, Pattern recognition, Retinal, medicine.disease, eye diseases, chemistry, 030221 ophthalmology & optometry, 020201 artificial intelligence & image processing, sense organs, Artificial intelligence, Noise (video), lcsh:Medicine (General), business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a058255a412803a768e249213e61c81
https://doi.org/10.3390/diagnostics10080602