المؤلفون: Michelle Peter, Rhiannon Mellis, Hannah McInnes-Dean, Morgan Daniel, Holly Walton, Jane Fisher, Kerry Leeson-Beevers, Stephanie Allen, Emma L. Baple, Ana Beleza-Meireles, Marta Bertoli, Jennifer Campbell, Natalie Canham, Deirdre Cilliers, Jan Cobben, Jacqueline Eason, Victoria Harrison, Muriel Holder-Espinasse, Alison Male, Sahar Mansour, Alec McEwan, Soo-Mi Park, Audrey Smith, Alison Stewart, Dagmar Tapon, Pradeep Vasudevan, Denise Williams, Wing Han Wu, Lyn S. Chitty, Melissa Hill

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: prenatal exome sequencing, prenatal diagnosis, genomic sequencing, healthcare professionals, genetic services, service evaluation, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2024.1401705/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/6dc8f4f638a84583ae1fa43934c939d4Test

المؤلفون: Katherine Johnson, Marta Bertoli, Lauren Phillips, Ana Töpf, Peter Van den Bergh, John Vissing, Nanna Witting, Shahriar Nafissi, Shirin Jamal-Omidi, Anna Łusakowska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Nicolas Deconinck, Carina Wallgren-Pettersson, Sonja Strang-Karlsson, Jaume Colomer, Kristl G. Claeys, Willem De Ridder, Jonathan Baets, Maja von der Hagen, Roberto Fernández-Torrón, Miren Zulaica Ijurco, Juan Bautista Espinal Valencia, Andreas Hahn, Hacer Durmus, Tracey Willis, Liwen Xu, Elise Valkanas, Thomas E. Mullen, Monkol Lek, Daniel G. MacArthur, Volker Straub

المصدر: Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)

مصطلحات موضوعية: Whole-exome sequencing, Dystroglycanopathies, Limb-girdle muscle weakness, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13395-018-0170-1Test; https://doaj.org/toc/2044-5040Test

الوصول الحر: https://doaj.org/article/7b793b20033f4da8837130c6461f81e4Test

المؤلفون: Katherine Johnson, Ana Töpf, Marta Bertoli, Lauren Phillips, Kristl G. Claeys, Vidosava Rakocevic Stojanovic, Stojan Perić, Andreas Hahn, Paul Maddison, Ela Akay, Alexandra E. Bastian, Anna Łusakowska, Anna Kostera-Pruszczyk, Monkol Lek, Liwen Xu, Daniel G. MacArthur, Volker Straub

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-11 (2017)

مصطلحات موضوعية: Whole exome sequencing, Sequence variants, Pompe disease, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-017-0722-1Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/b22d8d5ac3fd41be9eca559f06d13630Test

المؤلفون: Elizabeth Harris, Ana Topf, Rita Barresi, Judith Hudson, Helen Powell, James Tellez, Debbie Hicks, Anna Porter, Marta Bertoli, Teresinha Evangelista, Chiara Marini-Betollo, Ólafur Magnússon, Monkol Lek, Daniel MacArthur, Kate Bushby, Hanns Lochmüller, Volker Straub

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-12 (2017)

مصطلحات موضوعية: Myopathy, Limb girdle muscular dystrophy, Exome, Titinopathy, Collagen VI related dystrophy, Mosaicism, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-017-0699-9Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/756157a86465454187677c275a3b7cafTest

المؤلفون: Sueli Donizete Borelli, Jocimara Costa Mazzola, Alessandra Cristina Gobbi Matta, Angelica Yukari Takemoto, Marta Bertoli

المصدر: Revista Brasileira de Hematologia e Hemoterapia, Vol 35, Iss 6, Pp 395-399 (2013)

مصطلحات موضوعية: Hemotherapy service, Serology, Blood bank, Quality control, Blood donors/statistics & numerical data, Blood safety, Hepatitis C/blood, Biological markers, Brazil, Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842013000600395&lng=en&tlng=enTest; https://doaj.org/toc/1806-0870Test

الوصول الحر: https://doaj.org/article/d3796694806b484a95ef359d07f4c9dcTest

المؤلفون: Nicola Di Daniele, Stefano Condò, Michele Ferrannini, Marta Bertoli, Valentina Rovella, Laura Di Renzo, Antonino De Lorenzo

المصدر: International Journal of Endocrinology, Vol 2009 (2009)

مصطلحات موضوعية: Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1687-8337Test; https://doaj.org/toc/1687-8345Test

الوصول الحر: https://doaj.org/article/b05dd737a0ef4cb598cac8bc4ec58387Test

المؤلفون: Anne Gregor, Tanja Meerbrei, Thorsten Gerstner, Annick Toutain, Sally Ann Lynch, Karen Stals, Caroline Maxton, Johannes R. Lemke, John A. Bernat, Hannah M. Bombei, Nicola Foulds, David Hunt, Alma Kuechler, Jasmin Beygo, Petra Stöbe, Arjan Bouman, Maria Palomares-Bralo, Fernando Santos-Simarro, Sixto Garcia-Minaur, Marta Pacio-Miguez, Bernt Popp, Georgia Vasileiou, Moritz Hebebrand, André Reis, Sarah Schuhmann, Mandy Krumbiegel, Natasha J. Brown, Peter Sparber, Lyusya Melikyan, Liudmila Bessonova, Tatiana Cherevatova, Artem Sharkov, Natalia Shcherbakova, Tabib Dabir, Usha Kini, Eva M.C. Schwaibold, Tobias B. Haack, Marta Bertoli, Sabine Hoffjan, Ruth Falb, Marwan Shinawi, Heinrich Sticht, Christiane Zweier

العلاقة: info:eu-repo/grantAgreement/EC/H2020/837547/; https://zenodo.org/record/5510296Test; https://doi.org/10.1093/hmg/ddab265Test; oai:zenodo.org:5510296

الإتاحة: https://doi.org/10.1093/hmg/ddab265Test
https://zenodo.org/record/5510296Test

المؤلفون: Sayaka Kayumi, Luis A. Pérez-Jurado, María Palomares, Sneha Rangu, Sarah E. Sheppard, Wendy K. Chung, Michael C. Kruer, Mira Kharbanda, David J. Amor, George McGillivray, Julie S. Cohen, Sixto García-Miñaúr, Clare L. van Eyk, Kelly Harper, Lachlan A. Jolly, Dani L. Webber, Christopher P. Barnett, Fernando Santos-Simarro, Marta Pacio-Míguez, Angela del Pozo, Somayeh Bakhtiari, Matthew Deardorff, Holly A. Dubbs, Kosuke Izumi, Katheryn Grand, Christopher Gray, Paul R. Mark, Elizabeth J. Bhoj, Dong Li, Xilma R. Ortiz-Gonzalez, Beth Keena, Elaine H. Zackai, Ethan M. Goldberg, Guiomar Perez de Nanclares, Arrate Pereda, Isabel Llano-Rivas, Ignacio Arroyo, María Ángeles Fernández-Cuesta, Christel Thauvin-Robinet, Laurence Faivre, Aurore Garde, Benoit Mazel, Ange-Line Bruel, Michael L. Tress, Eva Brilstra, Amena Smith Fine, Kylie E. Crompton, Alexander P.A. Stegmann, Margje Sinnema, Servi C.J. Stevens, Joost Nicolai, Gaetan Lesca, Laurence Lion-François, Damien Haye, Nicolas Chatron, Amelie Piton, Mathilde Nizon, Benjamin Cogne, Siddharth Srivastava, Jennifer Bassetti, Candace Muss, Karen W. Gripp, Rebecca A. Procopio, Francisca Millan, Michelle M. Morrow, Melissa Assaf, Andres Moreno-De-Luca, Shelagh Joss, Mark J. Hamilton, Marta Bertoli, Nicola Foulds, Shane McKee, Alastair H. MacLennan, Jozef Gecz, Mark A. Corbett

المساهمون: MUMC+: DA KG Lab Specialisten (9), MUMC+: DA KG Polikliniek (9), Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience

المصدر: Genetics in Medicine, 24(11), 2351-2366. Nature Publishing Group

مصطلحات موضوعية: Phenotype, Neurodevelopmental Disorders, Autism, Intellectual Disability, Familial exudative vitreoretinopathy, Microcephaly, Cerebral palsy, Humans, Genomics, Wnt Signaling Pathway, Genetics (clinical), Wnt beta catenin signaling pathway, beta Catenin

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39da46305e279508a3404a4fa7b9a021Test
https://cris.maastrichtuniversity.nl/en/publications/8765aa6f-3ad3-4759-bfa6-47bb6f32b0fcTest

المؤلفون: Christiane Zweier, Anne Gregor, Caroline Maxton, Tatiana Cherevatova, Nicola Foulds, Arjan Bouman, John A. Bernat, Hannah Bombei, Heinrich Sticht, Sarah Schuhmann, Sixto García-Miñaur, Liudmila Bessonova, Tobias B. Haack, Lyusya Melikyan, A. A. Sharkov, Marta Pacio-Míguez, Sabine Hoffjan, Fernando Santos-Simarro, Georgia Vasileiou, Petra Stöbe, María Palomares-Bralo, Mandy Krumbiegel, Natasha J Brown, Moritz Hebebrand, Bernt Popp, Karen Stals, Alma Kuechler, Ruth Falb, Marwan Shinawi, Thorsten Gerstner, Johannes R. Lemke, Eva M. C. Schwaibold, Usha Kini, N. V. Shcherbakova, André Reis, Marta Bertoli, Jasmin Beygo, Peter Sparber, Sally Ann Lynch, Tanja Meerbrei, Tabib Dabir, David Hunt, Annick Toutain

المصدر: Human Molecular Genetics
Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R; Bernat, John A; Bombei, Hannah M; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Pacio-Miguez, Marta; ... (2022). De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Human molecular genetics, 31(3), pp. 440-454. Oxford University Press 10.1093/hmg/ddab265 <http://dx.doi.org/10.1093/hmg/ddab265Test>

مصطلحات موضوعية: Protein-Arginine N-Methyltransferases, Mutant, Mutation, Missense, Medizin, 610 Medicine & health, Biology, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Genetics, Missense mutation, Humans, 10. No inequality, Molecular Biology, Gene, Genetics (clinical), 030304 developmental biology, 0303 health sciences, F-Box Proteins, HEK 293 cells, General Medicine, Subcellular localization, Phenotype, HEK293 Cells, Neurodevelopmental Disorders, 030220 oncology & carcinogenesis, Haploinsufficiency, Nuclear localization sequence, HeLa Cells

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84e1c36b221ba0f786e0d35fa0e1ac8fTest
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85124433708Test

المؤلفون: Karin I. Pappelbaum, Nicolina Virgilio, Lisa Epping, Bastiaan van der Steen, Francisco Jimenez, Wolfgang Funk, Janne Prawitt, Marta Bertolini

المصدر: Journal of Functional Foods, Vol 116, Iss , Pp 106124- (2024)

مصطلحات موضوعية: Collagen peptides, Dietary supplementation, Hair growth, Hair shedding, Hair loss, Hair follicle stem cells, Nutrition. Foods and food supply, TX341-641

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S1756464624001269Test; https://doaj.org/toc/1756-4646Test

الوصول الحر: https://doaj.org/article/d5a618f2829945dea99bdce7675ec120Test