المؤلفون: Tom S. Koemans, Marjolein H. Willemsen, Jeroen van Reeuwijk, Arjan P.M. de Brouwer, Willem M.R. van den Akker, Nael Nadif Kasri, Joris A. Veltman, Huiqing Zhou, Christian Gilissen, Koenraad Devriendt, Hans van Bokhoven, Han G. Brunner, Annette Schenck, Kornelia Neveling, Lisenka E.L.M. Vissers, Robin D. Clark, Michaela Fenckova, Willemijn M. Wissink-Lindhout, Tjitske Kleefstra, Jamie M. Kramer, Trine Prescott, Willy M. Nillesen

المصدر: American Journal of Human Genetics, 91, 1, pp. 73-82
American Journal of Human Genetics, 91, 73-82
The American Journal of Human Genetics; Vol 91

مصطلحات موضوعية: Male, medicine.medical_specialty, Genetics and epigenetic pathways of disease [NCMLS 6], Chromosomal Proteins, Non-Histone, DCN MP - Plasticity and memory, Biology, Article, Epigenesis, Genetic, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, EHMT1, 0302 clinical medicine, Intellectual Disability, Intellectual disability, medicine, Genetics, Animals, Humans, Genetics(clinical), Epigenetics, Gene, Constitutive Androstane Receptor, Genetics (clinical), 030304 developmental biology, Kleefstra Syndrome, 0303 health sciences, Infant, Newborn, Histone-Lysine N-Methyltransferase, SMARCB1 Protein, Syndrome, Effective primary care and public health [NCEBP 7], medicine.disease, Phenotype, Chromatin, 3. Good health, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], DNA-Binding Proteins, Mutation, Medical genetics, Drosophila, Female, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], 030217 neurology & neurosurgery, Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7f2a3f52a56c9d7642aae176b312665Test

المؤلفون: Klaus Zerres, Helenius J. Schelhaas, R. Brian Lowry, Irmgard Hölker, Aad Verrips, Henny H. Lemmink, Sascha Vermeer, Christian Gilissen, Richard J. Sinke, Maartje Pennings, Lutz Garbes, Joris A. Veltman, Kornelia Neveling, Linda MacLaren, Lilian A. Martinez-Carrera, Brunhilde Wirth, Catharina J.M. Frijns, Hans Scheffer, Seyyedmohsen Hosseinibarkooie, Rowdy Meijer, Oksana Suchowersky, Sabine Rudnik-Schöneborn, Margot G E Te Riele, Angelien Heister

المساهمون: Faculteit Medische Wetenschappen/UMCG, Ethical, Legal, Social Issues in Genetics (ELSI)

المصدر: American Journal of Human Genetics, 92(6), 946-954. CELL PRESS
American Journal of Human Genetics, 92, pp. 946-954
American Journal of Human Genetics, 92, 946-954
The American Journal of Human Genetics; Vol 92

مصطلحات موضوعية: Male, MISSENSE MUTATIONS, Genetic Linkage, Golgi Apparatus, PROTEIN, SMN1, AMYOTROPHIC-LATERAL-SCLEROSIS, 0302 clinical medicine, Genetics(clinical), Amyotrophic lateral sclerosis, Conserved Sequence, Genetics (clinical), Exome sequencing, Genes, Dominant, Genetics, 0303 health sciences, BICAUDAL-D, SMA, Pedigree, Child, Preschool, symbols, Female, Microtubule-Associated Proteins, DYNACTIN, Adult, DCN MP - Plasticity and memory, Mutation, Missense, Biology, Polymorphism, Single Nucleotide, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Muscular Atrophy, Spinal, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, symbols.namesake, Report, medicine, Humans, MRNA transport, Amino Acid Sequence, MARIE-TOOTH-DISEASE, Genetic Association Studies, 030304 developmental biology, Base Sequence, NEUROPATHY, Sequence Analysis, DNA, Spinal muscular atrophy, Fibroblasts, Golgi apparatus, medicine.disease, BICD2, HEAVY-CHAIN, GENE, Molecular biology, TRANSPORT, Carrier Proteins, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], 030217 neurology & neurosurgery, HeLa Cells

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c15335250139dee950908f12f7be0d0dTest

المؤلفون: Francesco Muntoni, Lucy Feng, Eric P. Hoffman, Dirk Lefeber, Hans van Bokhoven, Carla Grosmann, Akanchha Kesari, Sebahattin Cirak, A. Reghan Foley, Derek L. Stemple, Silvia Torelli, Enrico Bertini, Sonia Messina, Shu Yau, Lina Brodd, Matthew E. Hurles, Kevin P. Campbell, Alexander Hoischen, Steven A. Moore, Ros Quinlivan, Jaya Punetha, Carsten G. Bönnemann, Helen Young, Monique van Scherpenzeel, Daniel G. MacArthur, Caroline Sewry, Yung-Yao Lin, Moniek Riemersma, Keren J. Carss, Elizabeth Stevens, Kathryn N. North, Elizabeth Wraige, Leigh B. Waddell, Tobias Willer, Jose E. Abdenur

المصدر: American Journal of Human Genetics, 93, 29-41
American Journal of Human Genetics, 93, 1, pp. 29-41

مصطلحات موضوعية: Male, Glycosylation, DNA Mutational Analysis, medicine.disease_cause, chemistry.chemical_compound, 0302 clinical medicine, Laminin, Genetics(clinical), Eye Abnormalities, Muscular dystrophy, Dystroglycans, Genetics (clinical), Zebrafish, Genetics, 0303 health sciences, Mutation, biology, Nucleotidyltransferases, Child, Preschool, Female, Guanosine Diphosphate Mannose, Heterozygote, DCN MP - Plasticity and memory, Mutation, Missense, Article, Abnormal glycosylation, 03 medical and health sciences, Glycoprotein complex, medicine, Animals, Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Walker–Warburg syndrome, Muscle, Skeletal, DCN NN - Brain networks and neuronal communication, Genetic Association Studies, 030304 developmental biology, Infant, Newborn, Infant, Glycostation disorders [IGMD 4], Fibroblasts, medicine.disease, Molecular biology, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], chemistry, Muscular Dystrophies, Limb-Girdle, biology.protein, Guanosine diphosphate mannose, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1495b8a429ac1cfb4593f153c356059Test

المؤلفون: Sander B. Nabuurs, Bert B.A. de Vries, Astrid R. Oudakker, Lionel Willatt, Dorien Lugtenberg, Tjitske Kleefstra, Jean Pierre Fryns, Jeroen van Reeuwijk, Martijn J.G. Banning, Ben C.J. Hamel, Jamel Chelly, Helen V. Firth, Hans-Hilger Ropers, Helger G. Yntema, Martine Raynaud, Hans van Bokhoven, Arjan P.M. de Brouwer, Claude Moraine, Jozef Gecz

المصدر: American Journal of Human Genetics, 78, 2, pp. 265-78
American Journal of Human Genetics, 78, 265-78
American Journal of Human Genetics, 78, 265-278

مصطلحات موضوعية: Male, Models, Molecular, Genetics and epigenetic pathways of disease [NCMLS 6], Protein Conformation, Bioinformatics, Molecular Sequence Data, Nonsense mutation, Kruppel-Like Transcription Factors, Biology, medicine.disease_cause, Contiguous gene syndrome, Genomic disorders and inherited multi-system disorders [IGMD 3], Cognitive neurosciences [UMCN 3.2], Genetics, medicine, Humans, Coding region, Genetics(clinical), Amino Acid Sequence, Child, Gene, Phylogeny, Genetics (clinical), X chromosome, Zinc finger, Mutation, Bacterial artificial chromosome, Zinc Fingers, Articles, medicine.disease, Amino Acid Substitution, Child, Preschool, Mental Retardation, X-Linked, Female, Cellular energy metabolism [UMCN 5.3], Functional Neurogenomics [DCN 2]

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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70f9c8ef3ca665c5e0f65148161e7d07Test

المؤلفون: Lidia Larizza, Alessandra Sirri, Jamel Chelly, Martine Raynaud, Veronica Bianchi, Salvatore Carrabino, Silvia Russo, Charles E. Schwartz, Hans-Hilger Ropers, Barbara Oehl-Jaschkowitz, Patrizia D'Adamo, Errico D'Elia, Hilde Van Esch, Francesca Cogliati, Jozef Gecz, Maria Lidia Mignogna, Daniela Toniolo, Cindy Skinner, Matteo Vecellio, Arjan P.M. de Brouwer, Maila Giannandrea, Vera M. Kalscheuer, Andreas Tzschach

المصدر: American Journal of Human Genetics, 86, 185-95
American Journal of Human Genetics, 86, 2, pp. 185-95

مصطلحات موضوعية: Male, Genetics and epigenetic pathways of disease [NCMLS 6], DNA Mutational Analysis, Molecular Sequence Data, Population, Down-Regulation, Golgi Apparatus, GTPase, Biology, medicine.disease_cause, Article, Chromatin remodeling, Craniofacial Abnormalities, Genomic disorders and inherited multi-system disorders [IGMD 3], Mice, Genetics, medicine, Animals, Humans, Genetics(clinical), Small GTPase, Autistic Disorder, RNA, Small Interfering, education, Gene, Genetics (clinical), Neurons, education.field_of_study, Mutation, Epilepsy, Base Sequence, Brain, Cell Differentiation, Stop codon, Pedigree, Protein Transport, Organ Specificity, rab GTP-Binding Proteins, Synapses, Mental Retardation, X-Linked, Female, Rab, HeLa Cells

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0a19244c6ad00f9f8c1d7270845760aTest