المؤلفون: C. L. van Eyk, D. L. Webber, A. E. Minoche, L. A. Pérez-Jurado, M. A. Corbett, A. E. Gardner, J. G. Berry, K. Harper, A. H. MacLennan, J. Gecz

المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2056-7944Test

الوصول الحر: https://doaj.org/article/61a54edbe47743da93200c28f491089bTest

المؤلفون: Matthew H. MacLennan, André le Roux

المصدر: BMC Geriatrics, Vol 22, Iss 1, Pp 1-11 (2022)

مصطلحات موضوعية: Amyloidoma, Transthyretin, Cervical spine, Spinal decompression and fusion, Case report, Geriatrics, RC952-954.6

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2318Test

الوصول الحر: https://doaj.org/article/c968d2eed84e4afab8b9f9a956acb6d2Test

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: Clare van Eyk, Suzanna C. MacLennan, Alastair H. MacLennan

المصدر: JAMA Pediatrics. 177:455

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::09536d19514f567163a1a637bb1dea54Test
https://doi.org/10.1001/jamapediatrics.2023.0015Test

المؤلفون: Luis A. Pérez-Jurado, Kelly Harper, Jozef Gecz, C. L. van Eyk, A. E. Minoche, Jesia G. Berry, Mark A. Corbett, Alastair H. MacLennan, Alison Gardner, Dani L. Webber

المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-11 (2021)
NPJ Genomic Medicine

مصطلحات موضوعية: Proband, medicine.medical_specialty, Genetic testing, Hereditary spastic paraplegia, QH426-470, Article, Cerebral palsy, Internal medicine, Neonatal brain damage, Genetics, Medicine, Copy-number variation, Molecular Biology, Genetics (clinical), Whole genome sequencing, Molecular medicine, medicine.diagnostic_test, business.industry, Neurodevelopmental disorders, medicine.disease, Cohort, Medical genetics, business, Medical genomics

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4da39bc3a1f943ac688f055c11574ae0Test
https://doaj.org/article/61a54edbe47743da93200c28f491089bTest

المؤلفون: David H. MacLennan, Michael S. Phillips, Yilin Zhang

المصدر: Malignant Hyperthermia ISBN: 9780138748432

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::448111f707ab25895c300a10071bb634Test
https://doi.org/10.1201/9780138748435-25Test

المؤلفون: Matthew H. MacLennan, Dana El-Mughayyar, Najmedden Attabib

المصدر: Journal of Neurosurgery: Case Lessons. 2

مصطلحات موضوعية: General Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a92e57ed264040f0b61611e55a7a834bTest
https://doi.org/10.3171/case21564Test

المؤلفون: Matthew H. MacLennan, André le Roux

المصدر: BMC geriatrics. 22(1)

مصطلحات موضوعية: Male, Humans, Prealbumin, Amyloidogenic Proteins, Amyloidosis, Geriatrics and Gerontology, Magnetic Resonance Imaging, Aged

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aeb5e2ebf7a273c8ac769f4217e2b03aTest
https://pubmed.ncbi.nlm.nih.gov/36109706Test

المؤلفون: Marine Martin, Catherine Hill, Susan Bewley, Alastair H. MacLennan, Alain Braillon

المصدر: Birth defects researchREFERENCES. 114(1)

مصطلحات موضوعية: Male, Embryology, Epilepsy, Drug-Related Side Effects and Adverse Reactions, Health, Toxicology and Mutagenesis, Cleft Lip, Valproic Acid, Abnormalities, Drug-Induced, Toxicology, Cleft Palate, Histones, Pregnancy Complications, Mice, Pregnancy, Pediatrics, Perinatology and Child Health, Animals, Humans, Anticonvulsants, Female, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d46780e7c451bebab44d1ff43b6572c5Test
https://pubmed.ncbi.nlm.nih.gov/34866359Test

المؤلفون: Manju A. Kurian, David J. Amor, Sarah McIntyre, Jozef Gecz, Clare L. van Eyk, Andres Moreno-De-Luca, Michael C Fahey, Gareth Baynam, Richard F. Wintle, Hayley Smithers-Sheedy, Bo Jacobsson, Carlos Santos Ocaña, Alastair H. MacLennan, Carina Mallard, Peter J. Rosenbaum, Michael C. Kruer, Changlian Zhu, Kate Himmelmann, Darcy Fehlings, Mikko Hallman, Yana Wilson, Hilla Ben-Pazi, Mark A. Corbett, Luis A. Pérez-Jurado, Nadia Badawi, Sara A. Lewis, Xiaoyang Wang, Richard J. Leventer

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
Journal of Child Neurology

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Causation, Cerebral palsy, causation, 03 medical and health sciences, Epilepsy, Social support, 0302 clinical medicine, Neurodevelopmental disorder, 030225 pediatrics, genomics, medicine, Humans, cerebral palsy, Clinical definition, business.industry, Genetic variants, High-Throughput Nucleotide Sequencing, Genomics, medicine.disease, clinical definition, Clinical diagnosis, Pediatrics, Perinatology and Child Health, Etiology, Neurology (clinical), business, Topical Review Article, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::754482e5a4aa25f7dec397332045a114Test
https://doi.org/10.1177/0883073819840449Test