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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 -
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المؤلفون: Vladimir G. Gainullin, Francisca Millan, Claire Teigen, Julie Scuffins, Andres Moreno-De-Luca, Kevin J. Arvai, H. Lester Kirchner, Matthew T. Oetjens, Houda Zghal Elloumi, Scott M. Myers, Karen E. Wain, Kyle Retterer, Rebecca I. Torene, Christa Lese Martin, Denis R. Pesacreta, David H. Ledbetter
المصدر: JAMA
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Cross-sectional study, 01 natural sciences, Cerebral palsy, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Interquartile range, Exome Sequencing, medicine, Prevalence, Humans, 030212 general & internal medicine, Genetic Testing, 0101 mathematics, Child, Exome sequencing, Genetic testing, Original Investigation, Retrospective Studies, Asphyxia, medicine.diagnostic_test, business.industry, Cerebral Palsy, 010102 general mathematics, Obstetrics and Gynecology, Genetic Variation, Retrospective cohort study, General Medicine, Middle Aged, medicine.disease, Cross-Sectional Studies, Autism spectrum disorder, Neurodevelopmental Disorders, Child, Preschool, Cohort, Mutation, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e21b972c94b43cf08909e42ac0e8f883Test
https://europepmc.org/articles/PMC7856544Test/ -
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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
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Journal of Child Neurologyمصطلحات 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 -
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المؤلفون: Yana A. Wilson, Gareth Baynam, Richard F. Wintle, Michael C. Kruer, Alastair H. MacLennan, Andres Moreno-De-Luca, Jozef Gecz, Changlian Zhu
المصدر: Developmental medicine and child neurology. 60(2)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, Cerebral Palsy, International Cooperation, MEDLINE, Genomics, medicine.disease, Clinical neurology, Cerebral palsy, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Developmental Neuroscience, Pediatrics, Perinatology and Child Health, medicine, Humans, Neurology (clinical), Intensive care medicine, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03afc829a6d5b0fd5d34690b5eab3a71Test
https://pubmed.ncbi.nlm.nih.gov/29336076Test -
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المؤلفون: Andres Moreno-De-Luca, Christa Lese Martin, Chloe Shard, Gai L McMichael, Jozef Gecz, Evan E. Eichler, Alastair H. MacLennan, Santhosh Girirajan, Lam Son Nguyen, Jillian Nicholl, Eric Haan, Catherine S. Gibson
المصدر: European Journal of Human Genetics. 22:40-45
مصطلحات موضوعية: Adult, Male, rho GTP-Binding Proteins, Delta Catenin, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, DNA Copy Number Variations, endocrine system diseases, Population, Cell Cycle Proteins, Nerve Tissue Proteins, Biology, Bioinformatics, Article, Gene Frequency, Genetic linkage, Proto-Oncogene Proteins, Molecular genetics, mental disorders, Gene duplication, Genetics, medicine, Humans, Copy-number variation, education, Allele frequency, Genetics (clinical), Adaptor Proteins, Signal Transducing, Sequence Deletion, education.field_of_study, COP9 Signalosome Complex, Cerebral Palsy, Microfilament Proteins, Infant, Newborn, Infant, Catenins, Exons, Microarray Analysis, Human genetics, Cytoskeletal Proteins, Medical genetics, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39f0cf07eaddf860c7a9dfe089426bfcTest
https://doi.org/10.1038/ejhg.2013.93Test -
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المؤلفون: Paul M Fernhoff, Karen R Schmidt, Amanda M A Melton, Christa Lese Martin, Andres Moreno-De-Luca, David H. Ledbetter, Hui Mao, Sandra L Helmers, Thomas G Burns
المصدر: Journal of Medical Genetics. 48:141-144
مصطلحات موضوعية: Microcephaly, Adaptor Protein Complex 4, Tetraplegic cerebral palsy, Genes, Recessive, Biology, Bioinformatics, Article, Cerebral palsy, Epilepsy, Intellectual Disability, Intellectual disability, Genetics, medicine, Spastic, Humans, Abnormalities, Multiple, In Situ Hybridization, Fluorescence, Genetics (clinical), Microarray analysis techniques, Cerebral Palsy, Signal transducing adaptor protein, Syndrome, Microarray Analysis, medicine.disease, Pedigree
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c4bf4676b4785fbec4abe857193c4baTest
https://doi.org/10.1136/jmg.2010.082263Test -
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المصدر: The Lancet Neurology. (3):283-292
مصطلحات موضوعية: Asphyxia, Heterogeneous group, Physical disability, business.industry, Clinical Neurology, Psychological intervention, medicine.disease, Bioinformatics, Cerebral palsy, Clinical diagnosis, Intellectual disability, medicine, Autism, Neurology (clinical), medicine.symptom, business, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8db86c92bc2579dc7decbfb9f5f64581Test
