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1دورية أكاديمية
المصدر: Journal of Biochemical and Clinical Genetics, Vol 5, Iss 2, Pp 48-52 (2022)
مصطلحات موضوعية: ntrk2,obesity, developmental delay, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://www.ejmanager.com/fulltextpdf.php?mno=121281Test; https://doaj.org/toc/1658-807XTest
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2دورية أكاديمية
المؤلفون: Constance Maurer, Olga Boleti, Paria Najarzadeh Torbati, Farzaneh Norouzi, Anna Nicole Rebekah Fowler, Shima Minaee, Khalid Hama Salih, Mehdi Taherpour, Hassan Birjandi, Behzad Alizadeh, Aso Faeq Salih, Moniba Bijari, Henry Houlden, Alan Michael Pittman, Reza Maroofian, Yahya H. Almashham, Ehsan Ghayoor Karimiani, Juan Pablo Kaski, Eissa Ali Faqeih, Farveh Vakilian, Yalda Jamshidi
المصدر: Genes, Vol 14, Iss 1, p 182 (2023)
مصطلحات موضوعية: cardiomyopathy, hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), genetic mutations, pathogenic variants, whole exome sequencing, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Amani Abu-Shaheen, Ahmad Al Badr, Isamme Al Fayyad, Adel Al Qutub, Eissa Ali Faqeih, Mohamad Al-Tannir
المصدر: Trials, Vol 21, Iss 1, Pp 1-6 (2020)
مصطلحات موضوعية: Clinical trials, Cycle time, Startup, Streamline, Ethics approval, Institutional review board, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1745-6215Test
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4
المؤلفون: Ricardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, Michael Maier, Crystal Y. Chia, Kenneth Lay, Nur Ain Ali, Austin Larson, Fuad Al Mutairi, Nouriya Abbas Al-Sannaa, Eissa Ali Faqeih, Majid Alfadhel, Huma Arshad Cheema, Juliette Dupont, Stéphane Bézieau, Bertrand Isidor, Dorrain Yanwen Low, Yulan Wang, Grace Tan, Poh San Lai, Hugues Piloquet, Madeleine Joubert, Hulya Kayserili, Kimberly A. Kripps, Shareef A. Nahas, Eric P. Wartchow, Mikako Warren, Gandham SriLakshmi Bhavani, Majed Dasouki, Renata Sandoval, Elisa Carvalho, Luiza Ramos, Gilda Porta, Bin Wu, Harsha Prasada Lashkari, Badr AlSaleem, Raeda M. BaAbbad, Anabela Natália Abreu Ferrão, Vasiliki Karageorgou, Natalia Ordonez-Herrera, Suliman Khan, Peter Bauer, Benjamin Cogne, Aida M. Bertoli-Avella, Marie Vincent, Katta Mohan Girisha, Bruno Reversade
المساهمون: Center for Reproductive Medicine, ACS - Heart failure & arrhythmias, Amsterdam Reproduction & Development
المصدر: Nature genetics. Nature Publishing Group
مصطلحات موضوعية: Adult, Liver Cirrhosis, Liver, Tumor Suppressor Proteins, Hepatocytes, Genetics, Animals, Humans, RNA, Messenger, Syndrome, Child, Zebrafish
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::747ba8cc882c52da515268747f0c3985Test
https://doi.org/10.1038/s41588-022-01120-0Test -
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المؤلفون: Luisa Averdunk, Maxim A Huetzen, Daniel Moreno-Andrés, Reinhard Kalb, Shane McKee, Tzung-Chien Hsieh, Annette Seibt, Marten Schouwink, Seema Lalani, Eissa Ali Faqeih, Theresa Brunet, Peter Boor, Kornelia Neveling, Alexander Hoischen, Barbara Hildebrandt, Elisabeth Graf, Linchao Lu, Weidong Jin, Joerg Schaper, Jamal A Omer, Tanguy Demaret, Nicole Fleischer, Detlev Schindler, Peter Krawitz, Ertan Mayatepek, Dagmar Wieczorek, Lisa L. Wang, Wolfram Antonin, Ron D. Jachimowicz, Verena von Felbert, Felix Distelmaier
مصطلحات موضوعية: Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e05d2ec608fae328825bb6405c3c0f72Test
https://doi.org/10.1016/j.gim.2023.100836Test -
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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 -
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المؤلفون: Ian J. Wilson, Mohammed S. Al Riyami, Khawla A Rahim, Eric Olinger, Elisa Molinari, Laura Powell, Miguel Barroso-Gil, Abdulrahman Al-Hussaini, Naif A.M. Almontashiri, Shirlee Shril, John A. Sayer, Mohamed H Al-Hamed, Friedhelm Hildebrandt, Intisar Al Alawi, Colin G. Miles, Isa Al Salmi, Eissa Ali Faqeih
المصدر: Hum Mutat
مصطلحات موضوعية: Liver Cirrhosis, Genetics, Polycystic Kidney Diseases, Candidate gene, Homozygote, Genetic Diseases, Inborn, Kinesins, Biology, Disease gene identification, medicine.disease, Article, Frameshift mutation, Ciliopathy, Nephronophthisis, Exome Sequencing, medicine, Humans, Congenital hepatic fibrosis, Allele, Child, Genetics (clinical), Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acafb70264bfe00a165f44e4cacb7593Test
https://doi.org/10.1002/humu.24251Test -
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المؤلفون: Dana Marafi, Nina Kozar, Ruizhi Duan, Stephen Bradley, Kenji Yokochi, Fuad Al Mutairi, Nebal Waill Saadi, Sandra Whalen, Theresa Brunet, Urania Kotzaeridou, Daniela Choukair, Boris Keren, Caroline Nava, Mitsuhiro Kato, Hiroshi Arai, Tawfiq Froukh, Eissa Ali Faqeih, Ali M. AlAsmari, Mohammed M. Saleh, Filippo Pinto e Vairo, Pavel N. Pichurin, Eric W. Klee, Christopher T. Schmitz, Christopher M. Grochowski, Tadahiro Mitani, Isabella Herman, Daniel G. Calame, Jawid M. Fatih, Haowei Du, Zeynep Coban-Akdemir, Davut Pehlivan, Shalini N. Jhangiani, Richard A. Gibbs, Satoko Miyatake, Naomichi Matsumoto, Laura J. Wagstaff, Jennifer E. Posey, James R. Lupski, Dies Meijer, Matias Wagner
المصدر: Am J Hum Genet
Marafi, D, Kozar, N, Duan, R, Bradley, S, Yokochi, K, Al Mutairi, F, Waill Saadi, N, Whalen, S, Brune, T, Kotzaeridou, U, Choukair, D, Keren, B, Nava, C, Kato, M, Arai, H, Froukh, T, Faqeih, E A, AlAsmari, A M, Saleh, M M, Vairo, F P E, Pichurin, P N, Klee, E W, Schmitz, C T, Grochowski, C M, Mitani, T, Herman, I, Calame, D, Faith, J M, Du, H, Coban-Akdemir, Z, Pehlivan, D, Jhangiani, S N, Gibbs, R A, Miyatake, S, Matsumoto, N, Wagstaff, L J, Posey, J E, Lupski, J R, Meijer, D & Wagner, M 2022, ' A reverse Genetics and Genomics Approach to Gene Paralog Function and Disease : Myokymia and The Juxtaparanode ', American Journal of Human Genetics, vol. 109 . https://doi.org/10.1016/j.ajhg.2022.07.006Test
Am. J. Hum. Genet. 109, 1713-1723 (2022)مصطلحات موضوعية: gene and genome instability, facial myokymia, Nerve Tissue Proteins, peripheral nerve hyperexcitability syndromes, Kcna, Lgi3, Bi-allelic Variation, Facial Myokymia, Gene And Genome Instability, Genomic Rearrangement, Multi-exonic Cnv, Neurobiology Of Disease, Peripheral Nerve Hyperexcitability Syndromes, Potassium Channel Complexes, Mice, Report, Genetics, Animals, Humans, Myokymia, Genetics (clinical), potassium channel complexes, neurobiology of disease, Autoantibodies, Mammals, KCNA, Intracellular Signaling Peptides and Proteins, Genomics, Axons, Reverse Genetics, multi-exonic CNV, Phenotype, genomic rearrangement, bi-allelic variation, LGI3
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37caee5177da2f52c5e1a52549031f22Test
https://pubmed.ncbi.nlm.nih.gov/35948005Test -
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المؤلفون: Georg‐Friedrich Vogel, Alexandra Podpeskar, Dietmar Rieder, Helin Salzer, Dorota Garczarczyk‐Asim, Li Wang, Kuerbanjiang Abuduxikuer, Jian‐She Wang, Anke Scharrer, Eissa Ali Faqeih, Ali T. Aseeri, Julia Vodopiutz, Andreas Heilos, Judith Pichler, Wolf‐Dietrich Huber, Thomas Müller, A. S. Knisely, Andreas R. Janecke
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10مؤتمر
المؤلفون: Hudson Freeze, Bobby Ng, David Scott, Carlito Labrilla, Kimiyo Raymond, Zoe Powis, Sharon Suchy, Eissa Ali Faqeih, David Kronn, Brett Graham
مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Endocrinology & Metabolism, Genetics & Heredity, Medicine, Research & Experimental, Research & Experimental Medicine
العلاقة: http://hdl.handle.net/10536/DRO/DU:30151999Test; https://figshare.com/articles/conference_contribution/CONGENITAL_DISORDERS_OF_GLYCOSYLATION_IMPAIRED_FUCOSYLATION_AND_CHANGING_PERSPECTIVES/20662647Test
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