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1
المؤلفون: Glassford, Megan R., Rosenfeld, Jill A., Freedman, Alexa A., Zwick, Michael E., Mulle, Jennifer G.
المصدر: American Journal of Medical Genetics. Part a
مصطلحات موضوعية: Male, Developmental Disabilities, autism spectrum disorder, Chromosome Disorders, 3q29 microdeletion, Humans, Registries, Autistic Disorder, genomic disorders, Child, Research Articles, Genetic Association Studies, Learning Disabilities, copy number variation, Infant, Newborn, Infant, Syndrome, schizophrenia, developmental delay, 3q29 deletion, Phenotype, Child, Preschool, Female, Chromosomes, Human, Pair 3, Chromosome Deletion, patient‐reported outcomes, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::121c9c23ea583f3e8bc7bb42959067ebTest
http://europepmc.org/articles/PMC4849199Test -
2
المؤلفون: Johannes Leonhardt, Michael Ludwig, Mattias Schäfer, Stuart Hosie, Stefan Holland-Cunz, Anke Rißmann, Eberhard Schmiedeke, Sandra Weih, Ekkehart Jenetzky, Alina C. Hilger, Rolph Pfundt, Stefanie Märzheuser, Dominik Schmidt, Christina Kujath, Heiko Reutter, Markus M. Nöthen, Gabriel C. Dworschak, Markus Draaken, Nadine Zwink, Enrika Bartels, Markus Palta, Carlo Marcelis, Sabine Grasshoff-Derr, Ivo de Blaauw, Iris A.L.M. van Rooij
المصدر: American Journal of Medical Genetics. Part A, 161, 12, pp. 3035-41
American Journal of Medical Genetics. Part A, 161, 3035-41مصطلحات موضوعية: Heart Defects, Congenital, Male, medicine.medical_specialty, Candidate gene, Limb Deformities, Congenital, Tracheoesophageal fistula, Single-nucleotide polymorphism, Context (language use), Chromosome Disorders, Ephrin-B2, Biology, Gastroenterology, Anus, Imperforate, Mice, Esophagus, Internal medicine, Genetics, medicine, Animals, Humans, In patient, Genetics (clinical), Mice, Knockout, Chromosomes, Human, Pair 13, Infant, Newborn, Chromosome, Anatomy, medicine.disease, Anorectal Malformations, Spine, Trachea, Disease Models, Animal, Radius, Human Reproduction Renal disorder [NCEBP 12], Evaluation of complex medical interventions [NCEBP 2], Atresia, Child, Preschool, Mutation, Mutation testing, Female, Chromosome Deletion, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::242571bc9c5123a5bb62c60af41e5baaTest
https://hdl.handle.net/2066/125304Test -
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المؤلفون: Sun Hee Lee, Carlo Dionisi-Vici, Tae Joon Cho, Sheila Unger, Belinda Campos-Xavier, Giuseppina Timpani, Joris A. Veltman, Jörn Oliver Sass, Gen Nishimura, Lisenka E.L.M. Vissers, Diego Martinelli, Andrea Superti-Furga, Han G. Brunner, Domenico Barbuti, Ok Hwa Kim, Virginia Fano, Ahmet Dursun, Luisa Bonafé
المساهمون: Zonguldak Bülent Ecevit Üniversitesi
المصدر: American Journal of Medical Genetics. Part A, 155A, 11, pp. 2609-16
American Journal of Medical Genetics. Part A, 155A, 2609-16مصطلحات موضوعية: Male, IDH1, Genotype, DNA Mutational Analysis, Biology, medicine.disease_cause, Organic aciduria, Chondromatosis, Substrate Specificity, Glutarates, symbols.namesake, Germline mutation, D-2-hydroxyglutaric acidura, Genetics, medicine, Humans, Exome, Saliva, Genetics (clinical), Exome sequencing, Genetic Association Studies, Sanger sequencing, Mutation, Whole-genome sequencing, Mosaicism, Genome, Human, Somatic mutation, Brain Diseases, Metabolic, Inborn, Infant, Hypoxia-Inducible Factor 1, alpha Subunit, Molecular biology, Isocitrate Dehydrogenase, Isocitrate dehydrogenase, symbols, Ketoglutaric Acids, Female, Metaphyseal chondromatosis, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35b032a072bf32965d8180bbfc26419bTest
https://doi.org/10.1002/ajmg.a.34325Test -
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المصدر: American Journal of Medical Genetics. Part A, 146A, 233-7
American Journal of Medical Genetics. Part A, 146A, 2, pp. 233-7مصطلحات موضوعية: Male, Context (language use), Copper beaten skull, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Genetics, medicine, Humans, Global developmental delay, Genetics (clinical), Chromosomes, Human, Pair 10, Skull, Chromosome, Infant, Anatomy, Clavicle, Right clavicle, Radiography, Pseudarthrosis, medicine.anatomical_structure, Genetic defects of metabolism [UMCN 5.1], Congenital pseudoarthrosis, Chromosome Deletion, Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ec29f86a47d9e36b4c4ad6109da3fa2Test
https://doi.org/10.1002/ajmg.a.32088Test -
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المؤلفون: Alex J. Eggink, Ineke van der Burgt, Bregje W.M. van Bon, T.A.J. Antonius, Arno van Heijst, Kees Noordam
المصدر: American Journal of Medical Genetics. Part A, 146A, 496-9
American Journal of Medical Genetics. Part A, 146A, 4, pp. 496-9مصطلحات موضوعية: Male, medicine.medical_specialty, Denys–Drash syndrome, congenital, hereditary, and neonatal diseases and abnormalities, Health aging / healthy living [IGMD 5], Genes, Wilms Tumor, Arginine, Gastroenterology, Genomic disorders and inherited multi-system disorders [IGMD 3], Pulmonary hypoplasia, Fatal Outcome, Germline mutation, Internal medicine, Genetics, Humans, Point Mutation, Medicine, Histidine, Diaphragmatic hernia, Genetics (clinical), Hernia, Diaphragmatic, Lung, Endocrinology and reproduction [UMCN 5.2], business.industry, fungi, Effective Hospital Care [EBP 2], Infant, Newborn, Congenital diaphragmatic hernia, Functional imaging [IGMD 1], Nutrition and Health [UMCN 5.5], Denys-Drash Syndrome, medicine.disease, Pulmonary hypertension, Diaphragm (structural system), Human Reproduction [NCEBP 12], Mitochondrial medicine [IGMD 8], medicine.anatomical_structure, Endocrinology, Genetic defects of metabolism [UMCN 5.1], Female, Hernias, Diaphragmatic, Congenital, business, Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4a54fefc68e651aa8771216e7696287Test
https://hdl.handle.net/2066/69748Test -
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المؤلفون: Willem M.A. Verhoeven, Siegfried Tuinier, Ellen Wingbermühle, Jos I. M. Egger, Ineke van der Burgt
المساهمون: Psychiatry
المصدر: American Journal of Medical Genetics. Part A, 146A, 191-6
American Journal of Medical Genetics. Part A, 146A, 191-196
American Journal of Medical Genetics Part A, 146A(2), 191-196. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 146A, 2, pp. 191-196
American Journal of Medical Genetics. Part A, 146A, 2, pp. 191-6مصطلحات موضوعية: Adult, medicine.medical_specialty, Adolescent, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Genomic disorders and inherited multi-system disorders [IGMD 3], Experimental Psychopathology and Treatment, Alexithymia, Social cognition, Genetics, medicine, Humans, Psychiatry, Genetics (clinical), business.industry, Noonan Syndrome, medicine.disease, Anxiety Disorders, Social relation, PTPN11, Mood, Phenotype, Genetic defects of metabolism [UMCN 5.1], Mutation, Quality of Life, Noonan syndrome, Anxiety, medicine.symptom, business, Psychopathology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bebd8013396882aa2e1e6e293bec2f2dTest
https://hdl.handle.net/2066/55786Test -
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المؤلفون: Kalay, E., Uzumcu, A., Krieger, E., Caylan, R., Uyguner, O., Emiroglu, M. Ulubil, Erdol, H., Kayserili, H., Hafiz, G., Baserer, N., Heister, J.G.A.M., Hennies, H.C., Nurnberg, P., Basaran, S., Brunner, H.G., Cremers, C.W.R.J., Karaguzel, A., Wollnik, B., Kremer, H.
المصدر: American Journal of Medical Genetics. Part A, 143, 20, pp. 2382-9
American Journal of Medical Genetics. Part A, 143, 2382-9مصطلحات موضوعية: Genomic disorders and inherited multi-system disorders [IGMD 3], Genetics and epigenetic pathways of disease [NCMLS 6], Genetic defects of metabolism [UMCN 5.1], Bioinformatics, Perception and Action [DCN 1], otorhinolaryngologic diseases, Neurosensory disorders [UMCN 3.3], Cellular energy metabolism [UMCN 5.3], Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4070ae60c812daaffdd8a051f9bbf6b8Test
https://hdl.handle.net/2066/51606Test -
8Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9)
المؤلفون: Collin, R.W.J., Pauw, R.J., Schoots, J., Huygen, P.L.M., Hoefsloot, L.H., Cremers, C.W.R.J., Kremer, H.
المصدر: American Journal of Medical Genetics. Part A, 140, 16, pp. 1791-4
American Journal of Medical Genetics. Part A, 140, 1791-4مصطلحات موضوعية: Genomic disorders and inherited multi-system disorders [IGMD 3], Genetics and epigenetic pathways of disease [NCMLS 6], Genetic defects of metabolism [UMCN 5.1], Perception and Action [DCN 1], Neurosensory disorders [UMCN 3.3], Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4ffaddf822666189b5b2df5c07c6dd69Test
https://hdl.handle.net/2066/49510Test -
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المؤلفون: Eva Morava, Rodenburg, R., Hol, F., Linda De Meirleir, Sara Seneca, Busch, R., Den Heuvel, L., Jan Smeitink
المساهمون: Department of Embryology and Genetics, Pediatrics, Vrije Universiteit Brussel
المصدر: American Journal of Medical Genetics. Part A, 140, 7, pp. 752-6
Vrije Universiteit Brussel
American Journal of Medical Genetics. Part A, 140, 752-6مصطلحات موضوعية: Genomic disorders and inherited multi-system disorders [IGMD 3], Mitochondrial medicine [IGMD 8], Energy and redox metabolism [NCMLS 4], Genetic defects of metabolism [UMCN 5.1], Translational research [ONCOL 3], Glycostation disorders [IGMD 4], Brooks-Wisniewski-Brown syndrome, Cellular energy metabolism [UMCN 5.3]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::bd45ce198a5cda6750f8f2d3d5787219Test
https://hdl.handle.net/2066/50522Test -
10
المؤلفون: Rinne, T.K., Hamel, B.C.J., Bokhoven, J.H.L.M. van, Brunner, H.G.
المصدر: American Journal of Medical Genetics. Part A, 140, 13, pp. 1396-406
American Journal of Medical Genetics. Part A, 140, 1396-406مصطلحات موضوعية: Genomic disorders and inherited multi-system disorders [IGMD 3], stomatognathic diseases, Genetics and epigenetic pathways of disease [NCMLS 6], Genetic defects of metabolism [UMCN 5.1], Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ffb53f0446d5d1019c3d43a9d541ca98Test
https://hdl.handle.net/2066/51059Test
