-
1دورية أكاديمية
المؤلفون: Katarína Kušíková, Andrea Šoltýsová, Andrej Ficek, René G. Feichtinger, Johannes A. Mayr, Martina Škopková, Daniela Gašperíková, Miriam Kolníková, Karoline Ornig, Ognian Kalev, Serge Weis, Denisa Weis
المصدر: Genes, Vol 14, Iss 12, p 2174 (2023)
مصطلحات موضوعية: MTM1 gene, myotubularin, X-linked myotubular myopathy, centronuclear myopathy, genotype–phenotype correlations, DeepGestalt technology, Genetics, QH426-470
وصف الملف: electronic resource
-
2دورية أكاديمية
المؤلفون: Przemyslaw Szafranski, Tadeusz Majewski, Esra Yıldız Bölükbaşı, Tomasz Gambin, Justyna A. Karolak, Nahir Cortes-Santiago, Markus Bruckner, Gabriele Amann, Denisa Weis, Paweł Stankiewicz
المصدر: Genes and Diseases, Vol 9, Iss 6, Pp 1423-1426 (2022)
مصطلحات موضوعية: Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
-
3دورية أكاديمية
المؤلفون: Katarína Kušíková, René Günther Feichtinger, Bernhard Csillag, Ognian Kostadinov Kalev, Serge Weis, Hans-Christoph Duba, Johannes Adalbert Mayr, Denisa Weis
المصدر: Frontiers in Pediatrics, Vol 9 (2021)
مصطلحات موضوعية: VARS2 gene, oxidative phosphorylation, mitochondriopathy, hyperlactatemia, lethal hypertrophic cardiomyopathy, pulmonary hypertension, Pediatrics, RJ1-570
وصف الملف: electronic resource
-
4دورية أكاديميةGenotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring
المؤلفون: Dóra Nagy, Sarah Verheyen, Kristen M. Wigby, Artem Borovikov, Artem Sharkov, Valerie Slegesky, Austin Larson, Christina Fagerberg, Charlotte Brasch-Andersen, Maria Kibæk, Ingrid Bader, Rebecca Hernan, Frances A. High, Wendy K. Chung, Jolanda H. Schieving, Jana Behunova, Mateja Smogavec, Franco Laccone, Martina Witsch-Baumgartner, Joachim Zobel, Hans-Christoph Duba, Denisa Weis
المصدر: Genes, Vol 13, Iss 1, p 154 (2022)
مصطلحات موضوعية: POGZ gene, neurodevelopmental disorder, White-Sutton syndrome, genotype-phenotype association, clinical scoring, deep facial gestalt analysis, Genetics, QH426-470
وصف الملف: electronic resource
-
5
المؤلفون: Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Whalen Sandra, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Angela Abicht, Sébastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Erin H Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Christodoulou, Wendy K Chung, Rose Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Mohnish Suri, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian
المصدر: Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; ... (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. (In Press). Brain : a journal of neurology Oxford University Press 10.1093/brain/awad039 <http://dx.doi.org/10.1093/brain/awad039>
مصطلحات موضوعية: NDD, biallelic variation, AMC5, 610 Medicine & health, Neurology (clinical), Torsin-1A, 610 Medizin und Gesundheit, arthrogryposis multiplex congenita 5, Medical Genetics, Medicinsk genetik
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b06949eaa976668e979bbd3a670e289
http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-22889 -
6
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
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ceace68f22e9fddfec1c6fe140b0167
https://cris.maastrichtuniversity.nl/en/publications/81d27084-ec1f-4ef6-a38c-5c73866a5a8e -
7
المؤلفون: Henry Oppermann, Elia Marcos-Grañeda, Linnea Weiss, Christina Gurnett, Anne Marie Jelsig, Susanne Vineke, Bertrand Isidor, Sandra Mercier, Kari Magnussen, Pia Zacher, Mona Hashim, Alistair Pagnamenta, Simone Race, Siddharth Srivast, Zoë Frazier, Robert Maiwald, Matthias Pergande, Donatella Milani, Martina Rinelli, Jonathan Levy, Ilona Krey, Paolo Fontana, Fortunato Lonardo, Stephanie Riley, Jasmine Kretzer, Julia Rankin, Linda Reis, Elena Semina, Miriam Reuter, Stephen Scherer, Maria Iascone, Denisa Weis, Christina Fagerberg, Charlotte Brasch-Andersen, Lars Hansen, Alma Kuechler, Nathan Noble, Alice Gardham, Jessica Tenney, Geetanjali Rathore, Stefanie Beck-Woedl, Tobias Haack, Despina Pavlidou, Isis Atallah, Julia Vodopiutz, Andreas Janecke, Johannes Lemke, Rami Abou Jamra, Marta Nieto, Zeynep Tümer, Konrad Platzer
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::120f4187764161cb6139843429cb3d97
https://doi.org/10.21203/rs.3.rs-2401638/v1 -
8
المؤلفون: Mateja Smogavec, Maria Gerykova Bujalkova, Reinhard Lehner, Jürgen Neesen, Jana Behunova, Gülen Yerlikaya-Schatten, Theresa Reischer, Reinhard Altmann, Denisa Weis, Hans-Christoph Duba, Franco Laccone
المصدر: European Journal of Human Genetics. 30:428-438
مصطلحات موضوعية: Fetus, Pregnancy, Prenatal Diagnosis, Genetics, Humans, Exome, Female, Genetic Association Studies, Ultrasonography, Prenatal, Genetics (clinical), Retrospective Studies
-
9
المصدر: American Journal of Medical Genetics Part A. 185:3851-3858
مصطلحات موضوعية: Sanger sequencing, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Mutation, business.industry, Gene mutation, medicine.disease, medicine.disease_cause, DNA sequencing, symbols.namesake, Tuberous sclerosis, medicine.anatomical_structure, Genetics, symbols, Medicine, Digital polymerase chain reaction, TSC1, TSC2, business, Genetics (clinical)
-
10
المؤلفون: René G. Feichtinger, Katarína Kušíková, Johannes A. Mayr, Denisa Weis, Serge Weis, Bernhard Csillag, Ognian Kalev, Hans-Christoph Duba
المصدر: Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 9 (2021)مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, oxidative phosphorylation, Case Report, Pediatrics, hyperlactatemia, RJ1-570, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Genotype-phenotype distinction, pulmonary hypertension, medicine, Missense mutation, Exome sequencing, lethal hypertrophic cardiomyopathy, business.industry, Hypertrophic cardiomyopathy, VARS2 gene, medicine.disease, Pulmonary hypertension, Hypotonia, mitochondriopathy, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Hyperlactatemia, medicine.symptom, business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26858bc8f3306c0d27b5460ad0088fa1
http://europepmc.org/articles/PMC8085550