المؤلفون: Guissart, Claire, Latypova, Xenia, Rollier, Paul, Khan, Tahir N, Stamberger, Hannah, McWalter, Kirsty, Cho, Megan T, Kjaergaard, Susanne, Weckhuysen, Sarah, Lesca, Gaetan, Besnard, Thomas, Õunap, Katrin, Schema, Lynn, Chiocchetti, Andreas G, McDonald, Marie, de Bellescize, Julitta, Vincent, Marie, Van Esch, Hilde, Sattler, Shannon, Forghani, Irman, Thiffault, Isabelle, Freitag, Christine M, Barbouth, Deborah Sara, Cadieux-Dion, Maxime, Willaert, Rebecca, Sacoto, Maria J Guillen, Safina, Nicole P, Dubourg, Christèle, Grote, Lauren, Carré, Wilfrid, Saunders, Carol, Pajusalu, Sander, Farrow, Emily, Boland, Anne, Karlowicz, Danielle Hays, Deleuze, Jean-François, Wojcik, Monica H, Pressman, Rena, Isidor, Bertrand, Vogels, Annick, Van Paesschen, Wim, Al-Gazali, Lihadh, Shamsi, Aisha Mohamed Al, Claustres, Mireille, Pujol, Aurora, Sanders, Stephan J, Rivier, François, Leboucq, Nicolas, Cogné, Benjamin, Sasorith, Souphatta, Sanlaville, Damien, Retterer, Kyle, Odent, Sylvie, Katsanis, Nicholas, Bézieau, Stéphane, Koenig, Michel, Davis, Erica E, Pasquier, Laurent, Küry, Sébastien

المصدر: American Journal of Human Genetics. 102(5)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Intellectual and Developmental Disabilities (IDD), Neurodegenerative, Neurosciences, Pediatric, Rare Diseases, Brain Disorders, Autism, Mental Health, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Adult, Aged, 80 and over, Alleles, Animals, Autistic Disorder, Brain, Cerebellar Ataxia, Child, Child, Preschool, DNA Copy Number Variations, Disease Models, Animal, Female, Genes, Dominant, Genetic Complementation Test, Humans, Intellectual Disability, Larva, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Missense, Nuclear Receptor Subfamily 1, Group F, Member 1, Purkinje Cells, Syndrome, Zebrafish, RORA, autistic features, cerebellar ataxia, dual molecular effects, epilepsy, intellectual disability, neurodevelopmental disorder, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7rq0h7ddTest

المؤلفون: Ehsan Ghayoor Karimiani, Laura E. Kuil, Tjakko J. van Ham, Irene J. Chang, Robert F. Hevner, Reza Maroofian, C. Dirk Keene, Dana M. Jensen, Lee Astle, Caitlin S. Latimer, Herma C. van der Linde, Giridhar M. Shivaram, Nynke Oosterhof, Jeroen Demmers, Erica Young, Emily Loter, Ray A. M. Daza, James T. Bennett

المساهمون: Clinical Genetics, Biochemistry

المصدر: American Journal of Human Genetics, 104(5), 936-947. Cell Press
American Journal of Human Genetics, 936-947. CELL PRESS
STARTPAGE=936;ENDPAGE=947;ISSN=0002-9297;TITLE=American Journal of Human Genetics

مصطلحات موضوعية: 0301 basic medicine, Adult, Biology, Corpus callosum, Congenital Abnormalities, Leukoencephalopathy, Colony stimulating factor 1 receptor, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Leukoencephalopathies, Report, Genetics, medicine, Animals, Humans, Agenesis of the corpus callosum, Child, Zebrafish, Genetics (clinical), Homeodomain Proteins, Microglia, Corpus Callosum Agenesis, Homozygote, Infant, Newborn, Infant, Receptor Protein-Tyrosine Kinases, Human brain, Protein-Tyrosine Kinases, Zebrafish Proteins, medicine.disease, biology.organism_classification, Cell biology, Pedigree, Repressor Proteins, 030104 developmental biology, medicine.anatomical_structure, Phenotype, nervous system, Receptors, Granulocyte-Macrophage Colony-Stimulating Factor, Mutation, 030217 neurology & neurosurgery, Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b7691d605562e8ec60c91756d238346Test
https://research.rug.nl/en/publications/88cf7183-11a2-4b12-a5cf-8996726812b7Test

المؤلفون: Lisenka E.L.M. Vissers, Henricus P. M. Kunst, Rolph Pfundt, Joris A. Veltman, Ronald J.E. Pennings, Ilse Feenstra, Willy Nillessen, Han G. Brunner, Ronald J.C. Admiraal, Cor W. R. J. Cremers, Conny M. A. van Ravenswaaij-Arts

المصدر: American Journal of Human Genetics, 89, 813-819
American Journal of Human Genetics, 89(6), 813-819. CELL PRESS
American Journal of Human Genetics, 89, pp. 813-819

مصطلحات موضوعية: Male, Haploinsufficiency, Hemizygosity, Exon, Pregnancy, Intellectual disability, Perception and Action [DCN 1], Genetics(clinical), Child, Genetics (clinical), MICROTIA, Genetics, Teashirt zinc finger homeobox 1, Pedigree, FAMILY, DROSOPHILA, Child, Preschool, Female, Chromosome Deletion, Ear Canal, Adult, Foot Deformities, Congenital, Sequence analysis, Context (language use), Biology, Ultrasonography, Prenatal, REGION, HOXA2, Report, medicine, Humans, Abnormalities, Multiple, Hearing Loss, Genetic Association Studies, Loss function, CHROMOSOME 18Q, Homeodomain Proteins, MUTATIONS, Infant, medicine.disease, Flatfoot, GENE, Repressor Proteins, DELETIONS, PALATE, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Chromosomes, Human, Pair 18, Tomography, X-Ray Computed

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::781838b770cd4aed67ba2940a8081da6Test
https://doi.org/10.1016/j.ajhg.2011.11.008Test

المؤلفون: Erik-Jan Kamsteeg, Saskia D. van der Velde-Visser, Michael T. Geraghty, Christian Gilissen, Dirk J. Lefeber, Lihadh Al-Gazali, Joris A. Veltman, Han G. Brunner, Bart P.C. van de Warrenburg, Marinette van der Graaf, Amanda C. Smith, Martin Lammens, Willem M.R. van den Akker, Riad Bayoumi, Salma Ben-Salem, Arjan P.M. de Brouwer, Jeremy Schwartzentruber, Lisenka E.L.M. Vissers, Hans van Bokhoven, Bonnie Nijhof, Michèl A.A.P. Willemsen, Annette Schenck, Anna Castells Nobau, Corrie E. Erasmus, Adinda Diekstra, Bassam R. Ali, Anneke T. Vulto-van Silfhout, Sascha Vermeer, Ron A. Wevers, Irene M. Janssen, Susanne T. de Bot, Saeed Al-Yahyaee, Said Tariq, Peter Humphreys, Thachillath Pramathan, Bert B.A. de Vries, Irene Otte-Höller, Hubertus P. H. Kremer, Ilse I.G.M. van de Vondervoort, Janneke H M Schuurs-Hoeijmakers

المساهمون: Molecular Neuroscience and Ageing Research (MOLAR)

المصدر: American Journal of Human Genetics, 91, 6, pp. 1073-81
American Journal of Human Genetics, 91(6), 1073-1081. CELL PRESS
American Journal of Human Genetics, 91, 1073-81

مصطلحات موضوعية: Central Nervous System, Male, THIN CORPUS-CALLOSUM, INTELLECTUAL DISABILITY, Phospholipase, medicine.disease_cause, PATHWAY, Genotype, Gene Order, Genetics(clinical), PLASTICITY, Child, Genetics (clinical), Genetics, Mutation, Functional imaging [IGMD 1], Phenotype, Magnetic Resonance Imaging, Pedigree, DROSOPHILA, Phospholipases, Child, Preschool, Female, Intracellular, Adult, Adolescent, SEQUENCING DATA, Hereditary spastic paraplegia, DCN MP - Plasticity and memory, Genes, Recessive, Neuroimaging, Biology, KIAA0725P, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, Translational research [ONCOL 3], Report, medicine, Humans, TRAFFICKING, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Health aging / healthy living Cardiovascular diseases [IGMD 5], NEUROMUSCULAR-JUNCTION, Phospholipase A, Base Sequence, Spastic Paraplegia, Hereditary, Facies, Lipid metabolism, Glycostation disorders [IGMD 4], medicine.disease, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], nervous system diseases, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], MAMMALIAN SEC23P-INTERACTING PROTEIN

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64e6f6a1647a497e7f32c1894d808fadTest
https://hdl.handle.net/11370/c11479df-ed8e-482b-82c3-b39478a237f1Test

المؤلفون: Margit Schraders, Jaap Oostrik, Patrick L. M. Huygen, N.J.D. Weegerink, Ronald J.E. Pennings, Henricus P. M. Kunst, Hannie Kremer, Vera M. Kalscheuer, Sriram Kannan, Stefan A. Haas, Ronald J.C. Admiraal, Lies H. Hoefsloot, Hao Hu

المصدر: American Journal of Human Genetics, 88, 5, pp. 628-34
American Journal of Human Genetics, 88, 628-34

مصطلحات موضوعية: Adult, Male, Candidate gene, Adolescent, Hearing loss, DNA Mutational Analysis, Nonsense mutation, Muscle Proteins, Locus (genetics), Biology, Bioinformatics, Polymorphism, Single Nucleotide, Frameshift mutation, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, 03 medical and health sciences, 0302 clinical medicine, Genes, X-Linked, Report, medicine, Perception and Action [DCN 1], Genetics, otorhinolaryngologic diseases, Humans, Genetics(clinical), Insulin-Like Growth Factor I, Child, Frameshift Mutation, Hearing Loss, Gene, Progressive hearing impairment, Genetics (clinical), X chromosome, 030304 developmental biology, 0303 health sciences, Molecular Sequence Annotation, Middle Aged, Glycostation disorders [IGMD 4], Pedigree, Genetics and epigenetic pathways of disease Neuroinformatics [NCMLS 6], Codon, Nonsense, Child, Preschool, Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6], Female, medicine.symptom, Sequence Analysis, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d7880e8b2735073f6f72e6dc292079fTest
https://hdl.handle.net/2066/97159Test

المؤلفون: David N, Herrmann, Rita, Horvath, Janet E, Sowden, Michael, Gonzalez, Michael, Gonzales, Avencia, Sanchez-Mejias, Zhuo, Guan, Roger G, Whittaker, Jorge L, Almodovar, Maria, Lane, Boglarka, Bansagi, Angela, Pyle, Veronika, Boczonadi, Hanns, Lochmüller, Helen, Griffin, Patrick F, Chinnery, Thomas E, Lloyd, J Troy, Littleton, Stephan, Zuchner

المساهمون: Massachusetts Institute of Technology. Department of Biology, Massachusetts Institute of Technology. Department of Brain and Cognitive Sciences, Picower Institute for Learning and Memory, Littleton, J. Troy, Guan, Zhuo

المصدر: Prof. Littleton

مصطلحات موضوعية: Male, Pathology, medicine.disease_cause, Synaptic Transmission, Synaptotagmin II, Missense mutation, Medicine, Genetics(clinical), Child, Genetics (clinical), Genes, Dominant, Genetics, Mutation, 0303 health sciences, 030305 genetics & heredity, Peripheral Nervous System Diseases, Middle Aged, Cell biology, 3. Good health, Pedigree, Synaptic vesicle exocytosis, Electrophysiology, Lambert-Eaton Myasthenic Syndrome, medicine.anatomical_structure, Drosophila, Female, Erratum, Lambert-Eaton myasthenic syndrome, Adult, medicine.medical_specialty, endocrine system, Adolescent, Biology, Neurotransmission, Synaptic vesicle, Neuromuscular junction, Synaptotagmin 1, Exocytosis, 03 medical and health sciences, Young Adult, Report, Animals, Humans, Motor Neuron Disease, 030304 developmental biology, Aged, business.industry, medicine.disease, Human genetics, Autosomal dominant form, business, Motor neuropathy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d71e9f753067c3308aba45fc083e3824Test
https://pubmed.ncbi.nlm.nih.gov/25192047Test

المؤلفون: S D, Colman, S A, Rasmussen, V T, Ho, C R, Abernathy, M R, Wallace

المصدر: American journal of human genetics. 58(3)

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Mosaicism, DNA, DNA, Neoplasm, Fibroblasts, Child, Preschool, Genes, Neurofibromatosis 1, Humans, Female, Child, Alleles, Cells, Cultured, Gene Deletion, Polymorphism, Restriction Fragment Length, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::3d4dc70f0269e6b921da07fb3d99ed96Test
https://pubmed.ncbi.nlm.nih.gov/8644707Test

المؤلفون: Pascale Hilbert, Carla Nishimura, Patrick L. M. Huygen, Francesca Gualandi, Eva Orzan, Jaroslaw Waligora, István Sziklai, Anne Françoise Roux, Delphine Feldmann, Edward S. Cohn, Felipe Moreno, Rafał Płoski, Heidi L. Rehm, Philip M. Kelley, Doris Nekahm-Heis, Kim Cryns, Sandrine Marlin, Pierangela Castorina, Nikolaus Blin, Cor W. R. J. Cremers, Alessandro Martini, Geneviève Lina-Granade, Deirdre Lucas, Paul Van de Heyning, Hans Henrik M. Dahl, Margaret A. Kenna, Françoise Denoyelle, Desirée du Sart, Nele Hilgert, Markus Pfister, Maria Bitner-Glindzicz, Lucy Jenkins, Lies H. Hoefsloot, Armagan Incesulu, Heikki Löppönen, Iris Schrijver, Tuija Löppönen, Rikkert L. Snoeckx, Umberto Ambrosetti, Céu Correia, Małgorzata Mueller-Malesińska, Lionel Van Maldergem, O. Bendová, Graça Fialho, Ignacio del Castillo, Tímea Tóth, Nathalie Pallares-Ruiz, Jerzy Bal, Agnete Parving, Joseph B. Roberson, Wojciech Wiszniewski, Karen B. Avraham, Ewa Nowakowska-Szyrwinska, Guy Van Camp, Alessandra Murgia, Richard J.H. Smith, Agneszka Pollak, Anna Frangulov, Michel Mondain, Pavel Seeman, Andreas R. Janecke, Karen Grønskov, Zippora Brownstein, Mustafa Tekin

المصدر: American Journal of Human Genetics, 77, 945-57
American Journal of Human Genetics, 77, 6, pp. 945-57
The American journal of human genetics

مصطلحات موضوعية: Male, DNA Mutational Analysis, Compound heterozygosity, Gastroenterology, Severity of Illness Index, Connexins, 0302 clinical medicine, Gene Frequency, Genotype, Perception and Action [DCN 1], Neurosensory disorders [UMCN 3.3], Multicenter Studies as Topic, Genetics(clinical), 030223 otorhinolaryngology, Child, Genetics (clinical), Genetics, 0303 health sciences, medicine.diagnostic_test, biology, Homozygote, Articles, Middle Aged, 3. Good health, Connexin 26, Child, Preschool, Female, medicine.symptom, Functional Neurogenomics [DCN 2], GJB6, Adult, medicine.medical_specialty, Heterozygote, Adolescent, Hearing loss, Genes, Recessive, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Audiometry, Internal medicine, medicine, otorhinolaryngologic diseases, Humans, Allele, Hearing Loss, Allele frequency, Alleles, 030304 developmental biology, Aged, Retrospective Studies, business.industry, Genetic heterogeneity, Infant, Newborn, Infant, Cross-Sectional Studies, Mutation, biology.protein, Linear Models, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b088a403539b4866dcf8e41df96427bTest
https://pubmed.ncbi.nlm.nih.gov/16380907Test

المؤلفون: Maria Cristina Digilio, Bruno Dallapiccola, Bruno Marino, Emanuela Conti, Tania Dottorini, Antonio Pizzuti, Anna Sarkozy, Rita Mingarelli

المصدر: American journal of human genetics. 71(2)

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Adolescent, Mutation, Missense, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Biology, Cardiofaciocutaneous syndrome, LEOPARD Syndrome, Café au lait spot, Report, Genetics, medicine, Humans, Genetics(clinical), Amino Acid Sequence, Hypertelorism, Child, Genetics (clinical), Polymorphism, Single-Stranded Conformational, Legius syndrome, Noonan Syndrome, Intracellular Signaling Peptides and Proteins, Exons, Sequence Analysis, DNA, medicine.disease, Protein Structure, Tertiary, PTPN11, Child, Preschool, Noonan syndrome, Female, medicine.symptom, Protein Tyrosine Phosphatases, Noonan Syndrome with Multiple Lentigines

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7cc0ef42af6364d045110ff6900b07aTest
https://pubmed.ncbi.nlm.nih.gov/12058348Test

المؤلفون: L.G. Bobrow, Douglas F. Easton, JF Stratton, Deborah J. Thompson, Peter A. Daly, Bruce A.J. Ponder, Gareth Evans, Neha Dalal, Martin Gore, D T Bishop, Ian A Scott

المصدر: American journal of human genetics. 65(6)

مصطلحات موضوعية: Oncology, Male, Neoplasm, Residual, endocrine system diseases, Epidemiology, Colorectal cancer, DNA Mutational Analysis, Genes, BRCA1, Neoplasms, Odds Ratio, Genetics(clinical), Age of Onset, Child, Genetics (clinical), Ovarian Neoplasms, education.field_of_study, Incidence, Nuclear Proteins, Articles, Neoplasm Proteins, DNA-Binding Proteins, Survival Rate, MutS Homolog 2 Protein, Female, MutL Protein Homolog 1, Adult, medicine.medical_specialty, Adolescent, Population, Biology, MLH1, Germline mutation, Internal medicine, Proto-Oncogene Proteins, Genetics, medicine, Humans, Genetic Predisposition to Disease, Risk factor, education, Germ-Line Mutation, Adaptor Proteins, Signal Transducing, Retrospective Studies, BRCA2 Protein, Family Health, Cancer, medicine.disease, United Kingdom, Endocrinology, MSH2, Mutation, Ovarian cancer, Carrier Proteins, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2bbe0cdd29ca973a6cb82c07c7b52c7Test
https://pubmed.ncbi.nlm.nih.gov/10577927Test