المؤلفون: Ashwin Dalal, Shagun Aggarwal, Ashish Bahal

المصدر: European Journal of Medical Genetics. 59:5-10

مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, General Medicine, Biology, Occludin, medicine.disease, medicine.disease_cause, Phenotype, 03 medical and health sciences, Exon, 030104 developmental biology, New mutation, medicine, Polymicrogyria, Gene, Genetics (clinical), Calcification

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a46c174ad7f2ac3d8917a000a2b47c00Test
https://doi.org/10.1016/j.ejmg.2015.11.014Test

المؤلفون: Martine J. van Belzen, Emilia K. Bijlsma, Irene M. van Langen, R. D. M. Belfroid, Alicia Semaka, Monique Losekoot, Chris Kay, Michael R. Hayden, Merel C. van Maarle, Mayke Oosterloo

المساهمون: Human Genetics, Ethical, Legal, Social Issues in Genetics (ELSI), Reproductive Origins of Adult Health and Disease (ROAHD), Health Psychology Research (HPR), MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience

المصدر: European Journal of Medical Genetics, 58(1), 28-30
European journal of medical genetics, 58(1), 28-30. Elsevier Masson SAS
European journal of medical genetics, 58(1), 28-30. ELSEVIER SCIENCE BV
European Journal of Medical Genetics, 58(1), 28-30. Elsevier

مصطلحات موضوعية: Male, haplotype, medicine.disease_cause, Fathers, 0302 clinical medicine, cognitive defect, differential diagnosis, Cognitive decline, Genetics (clinical), Genetics, CAG repeat, 0303 health sciences, Huntingtin Protein, Maternal Transmission, New mutation, allele, article, General Medicine, Huntington disease, Penetrance, HTT gene, 3. Good health, Female, Adult, congenital, hereditary, and neonatal diseases and abnormalities, heredity, Genetic counseling, Mothers, Nerve Tissue Proteins, Biology, Intermediate allele, 03 medical and health sciences, Heredity, mental disorders, medicine, case report, Humans, human, Allele, penetrance, gene, paternity test, Alleles, 030304 developmental biology, Huntington chorea, genetic counseling, Maternal CAG repeat expansion, Haplotype, Mutation, Trinucleotide repeat expansion, Trinucleotide Repeat Expansion, 030217 neurology & neurosurgery, dementia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df59443abf8a5b9ba54f35d6cfcc8a36Test
https://cris.maastrichtuniversity.nl/en/publications/dde7a46a-dee0-4956-8d07-179a756d8db7Test

المؤلفون: Semaka, A., Kay, C., Belfroid, R.D.M., Bijlsma, E.K., Losekoot, M., Langen, I.M. van, Maarle, M.C. van, Oosterloo, M., Hayden, M.R., Belzen, M.J. van

المصدر: European Journal of Medical Genetics

مصطلحات موضوعية: Huntington disease, Intermediate allele, New mutation, Maternal CAG repeat expansion, HTT gene

العلاقة: lumc-id: 4301081; https://hdl.handle.net/1887/107446Test

الإتاحة: https://doi.org/10.1016/j.ejmg.2014.11.005Test
https://hdl.handle.net/1887/107446Test

المؤلفون: Elena Bueno, Consolación Rosado, Pilar Fraile, Pedro Garcia-Cosmes, Rogelio González-Sarmiento

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
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مصطلحات موضوعية: Adult, Collagen Type IV, Adolescent, Hearing loss, Nephritis, Hereditary, Disease, urologic and male genital diseases, Autoantigens, Lenticonus, Young Adult, otorhinolaryngologic diseases, Genetics, medicine, Humans, Alport syndrome, Hearing Loss, Gene, COL4A3 gene, Genetics (clinical), business.industry, General Medicine, Middle Aged, medicine.disease, Anterior lenticonus, Autosomal dominant, Mutation (genetic algorithm), New mutation, Mutation, Female, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d50a0d6ab3460ff8ade572119afecfa2Test
https://pubmed.ncbi.nlm.nih.gov/25450602Test