المؤلفون: Erik Stoklund Larsen, Mia Stampe Lagergaard, Agnete Jørgensen, Barbara MacAulay, Jimmi Laursen

المصدر: Structure and Infrastructure Engineering. 18:1398-1409

مصطلحات موضوعية: Mechanical Engineering, Ocean Engineering, Building and Construction, Geotechnical Engineering and Engineering Geology, Safety, Risk, Reliability and Quality, Civil and Structural Engineering

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a874c447120749da3583683a2fd5df5bTest
https://doi.org/10.1080/15732479.2022.2044355Test

المؤلفون: Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglaede, Diana Baralle, Daniela Barge-Schaapveld, Moira Blyth, Mieke Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valerie Cormier-Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jorgensen, Sarina G. Kant, Cathy Kirally-Borri, David Koolen, Ajith Kumar, Anatalia Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury-Ecob, Daniela T. Pilz, Renata Posmyk, Carlos Prada, Keri Ramsey, Linda M. Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I. Karen Temple, Peter Turnpenny, Lionel Val Maldergem, Vinod Varghese, Hermine E. Veenstra-Knol, Naomi Yachelevich, Laura Yates, Deciphering Developmental Disorders (DDD) Study, Nazneen Rahman

المصدر: Wellcome Open Research, Vol 3 (2018)

مصطلحات موضوعية: Medicine, Science

العلاقة: https://wellcomeopenresearch.org/articles/3-46/v1Test; https://doaj.org/toc/2398-502XTest; https://doaj.org/article/c02e7b8508cf4bac9ec09604f83723ecTest

الإتاحة: https://doi.org/10.12688/wellcomeopenres.14430.1Test
https://doaj.org/article/c02e7b8508cf4bac9ec09604f83723ecTest

المؤلفون: Anna Zachariou, Peter D Turnpenny, Linda M. Randolph, Carlos E. Prada, Angelo Selicorni, Nazneen Rahman, Christine Fauth, Ajith Kumar, Deborah J. Shears, Melissa Lees, Valérie Cormier-Daire, Shazia Mahamdallie, Mieke C. Bouma, Kathryn G. Miller, Katherine Neas, Vinod Varghese, Deciphering Developmental Disorders Study, Renata Posmyk, Chey Loveday, Lise Aksglaede, Ruth Newbury-Ecob, Keri Ramsey, Laura Yates, Daniela T. Pilz, David A. Koolen, I. Karen Temple, Beau Crabb, Cyril Mignot, Katrina Tatton-Brown, Daniela Q.C.M. Barge-Schaapveld, Blanca Gener, Cathy Kirally-Borri, Mohnish Suri, Agnete Jørgensen, David Goudie, Catherine Mercer, Carlo Marcelis, Anthony Renwick, Lionel Val Maldergem, Diana Baralle, Naomi Yachelevich, Matthew F. Hunter, Hermine E. Veenstra-Knol, Sarina G. Kant, Moira Blyth, Tessa Homfray, Jeroen Breckpot, Anatalia Labilloy, Tabib Dabir, Richard Fisher

المصدر: Wellcome Open Research

مصطلحات موضوعية: 0301 basic medicine, Joint hypermobility, Pediatrics, medicine.medical_specialty, viruses, Medicine (miscellaneous), General Biochemistry, Genetics and Molecular Biology, Clinical study, 03 medical and health sciences, 0302 clinical medicine, Intellectual disability, medicine, Kyphoscoliosis, overgrowth, Tatton-Brown-Rahman, business.industry, Articles, biochemical phenomena, metabolism, and nutrition, medicine.disease, Obesity, Hypotonia, 3. Good health, 030104 developmental biology, Current management, intellectual disability, 030220 oncology & carcinogenesis, DNMT3A, TATTON-BROWN-RAHMAN SYNDROME, medicine.symptom, business, Research Article

وصف الملف: application/pdf; Electronic-eCollection; text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ceb29b45a78aef0b499193eccdce2526Test
https://openaccess.sgul.ac.uk/id/eprint/109923/1/a3803595-225c-457f-9a53-ef709c75251a_14430_-_Nazneen_Rahman.pdfTest

المؤلفون: Per Lunde, Toril Fagerheim, Svend Rand-Hendriksen, Dru F. Leistritz, Melanie Pepin, Peter H. Byers, Agnete Jørgensen, Torgrim O Vorren

المصدر: European Journal of Human Genetics

مصطلحات موضوعية: Adult, Male, Proband, Heterozygote, Adolescent, Molecular Sequence Data, Biology, Compound heterozygosity, Polymorphism, Single Nucleotide, Article, Exon, Genetics, medicine, Polymicrogyria, Humans, Missense mutation, Amino Acid Sequence, Allele, Alleles, Cells, Cultured, Genetics (clinical), Sequence (medicine), Siblings, medicine.disease, Aneurysm, Pedigree, Collagen Type III, Ehlers–Danlos syndrome, Ehlers-Danlos Syndrome, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1954786fd0aaca18d846629c872b72c3Test
https://doi.org/10.1038/ejhg.2014.181Test

المؤلفون: Florence Petit, Laura Vandervore, Peter H. Byers, Ibrahim Tanyalcin, Tim Vanderhasselt, Philippe Khau Van Kien, Nadia Bahi-Buisson, Muriel Holder-Espinasse, Filip Roelens, Agnete Jørgensen, Willy Lissens, Anna Jansen, Alexander Gheldof, Melanie Pepin, Katrien Stouffs

المساهمون: Clinical sciences, Faculty of Medicine and Pharmacy, Reproduction and Genetics, Department of Bio-engineering Sciences, Neurogenetics, Medical Imaging and Physical Sciences, Medical Imaging, Basic (bio-) Medical Sciences

مصطلحات موضوعية: 0301 basic medicine, Adult, Exome/genetics, Male, Child, preschool, Mutation/genetics, White Matter/pathology, Cerebellar dysplasia, Biology, medicine.disease_cause, Compound heterozygosity, Ligands, Magnetic Resonance Imaging/methods, 03 medical and health sciences, Exon, 0302 clinical medicine, Exons/genetics, medicine, Humans, Genetics(clinical), genetics, Allele, Child, Exome, Genetics (clinical), Alleles, Cells, Cultured, Genetics, Mutation, Cerebellar Diseases/genetics, Cysts/genetics, Phenotype, Collagen Type III/genetics, Fibroblasts/pathology, 030104 developmental biology, GPR56, Malformations of Cortical Development/genetics, young adult, Female, Receptors, G-Protein-Coupled/genetics, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb594457e5c3ed346d6e37083cd076a0Test
https://doi.org/10.1136/jmedgenet-2016-104421Test

المؤلفون: Laura, Vandervore, Katrien, Stouffs, Ibrahim, Tanyalçin, Tim, Vanderhasselt, Filip, Roelens, Muriel, Holder-Espinasse, Agnete, Jørgensen, Melanie G, Pepin, Florence, Petit, Philippe, Khau Van Kien, Nadia, Bahi-Buisson, Willy, Lissens, Alexander, Gheldof, Peter H, Byers, Anna C, Jansen

المصدر: Journal of medical genetics. 54(6)

مصطلحات موضوعية: Adult, Male, Cysts, Exons, Fibroblasts, Ligands, Magnetic Resonance Imaging, White Matter, Receptors, G-Protein-Coupled, Malformations of Cortical Development, Young Adult, Collagen Type III, Phenotype, Cerebellar Diseases, Child, Preschool, Mutation, Humans, Exome, Female, Child, Alleles, Cells, Cultured

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::a54184a81836926959e7e712d77f9b51Test
https://pubmed.ncbi.nlm.nih.gov/28258187Test

المؤلفون: Per M. Knappskog, Siren Berland, Cecilie Bredrup, Hilde E. Rusaas, Ingvild Aukrust, Gunnar Houge, Marte G. Haug, Agnete Jørgensen, Ragnhild Wivestad Jansson, Eyvind Rødahl

المصدر: Acta ophthalmologica. 95(3)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, DNA Mutational Analysis, Immunoblotting, ABCA4, Retinal Pigment Epithelium, Real-Time Polymerase Chain Reaction, law.invention, 03 medical and health sciences, Exon, Macular Degeneration, Young Adult, 0302 clinical medicine, law, medicine, Electroretinography, Humans, Stargardt Disease, splice, Fibroblast, Polymerase chain reaction, Cells, Cultured, Genetics, Messenger RNA, biology, General Medicine, Exons, Fibroblasts, medicine.disease, Rod Cell Outer Segment, Molecular biology, Introns, Pedigree, Stargardt disease, Ophthalmology, 030104 developmental biology, medicine.anatomical_structure, Phenotype, RNA splicing, Mutation, 030221 ophthalmology & optometry, biology.protein, RNA, ATP-Binding Cassette Transporters, Female, Tomography, Optical Coherence

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::411dd3139298372435635c65602407bfTest
https://pubmed.ncbi.nlm.nih.gov/27775217Test

المؤلفون: Katrien Stouffs, Nadia Bahi-Buisson, Filip Roelens, Anna Jansen, Peter H. Byers, Agnete Jørgensen, Ibrahim Tanyalcin, Philippe Khau Van Kien, Florence Petit, Tim Vanderhasselt, Alexander Gheldof, Laura Vandervore, Willy Lissens, Melanie Pepin, Muriel Holder-Espinasse

المصدر: European Journal of Paediatric Neurology. 21:e61

مصطلحات موضوعية: Pathology, medicine.medical_specialty, GPR56, Pediatrics, Perinatology and Child Health, Cerebellar cysts, medicine, Neurology (clinical), General Medicine, Allele, Biology, Ligand (biochemistry), White matter changes

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c9ae24c2134a16172317eaac4d86c0feTest
https://doi.org/10.1016/j.ejpn.2017.04.922Test