نتائج البحث - "carrier screening"

المساهمون: Pizzo, L., Jensen, M., Polyak, A., Rosenfeld, J. A., Mannik, K., Krishnan, A., Mccready, E., Pichon, O., Le Caignec, C., Van Dijck, A., Pope, K., Voorhoeve, E., Yoon, J., Stankiewicz, P., Cheung, S. W., Pazuchanics, D., Huber, E., Kumar, V., Kember, R. L., Mari, F., Curro, A., Castiglia, L., Galesi, O., Avola, E., Mattina, T., Fichera, M., Mandara, L., Vincent, M., Nizon, M., Mercier, S., Beneteau, C., Blesson, S., Martin-Coignard, D., Mosca-Boidron, A. -L., Caberg, J. -H., Bucan, M., Zeesman, S., Nowaczyk, M. J. M., Lefebvre, M., Faivre, L., Callier, P., Skinner, C., Keren, B., Perrine, C., Prontera, P., Marle, N., Renieri, A., Reymond, A., Kooy, R. F., Isidor, B., Schwartz, C., Romano, C., Sistermans, E., Amor, D. J., Andrieux, J., Girirajan, S.

مصطلحات موضوعية: 16p11.2 deletion, autism, CNV, modifier, phenotypic variability, Autistic Disorder, Cell Adhesion Molecules, Neuronal, Chromosomes, Human, Pair 16, Cognition, DNA Copy Number Variation, Female, Gene Expression Regulation, Genetic Background, Male, Methyltransferase, Nerve Tissue Protein, Parent, Pedigree, Phenotype, Protein, Sequence Deletion, Sibling, Genetic Carrier Screening

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30190612; info:eu-repo/semantics/altIdentifier/wos/WOS:000463167300008; volume:21; issue:4; firstpage:816; lastpage:825; numberofpages:10; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11365/1078706Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85053071043; http://www.nature.com/gim/index.htmlTest

الإتاحة: https://doi.org/10.1038/s41436-018-0266-3Test
http://hdl.handle.net/11365/1078706Test
http://www.nature.com/gim/index.htmlTest

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6

Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard

المؤلفون: Edwin P. Kirk, Martin B. Delatycki, Nigel Laing

المصدر: Journal of Inherited Metabolic Disease.

مصطلحات موضوعية: Phenotype, Genetic Carrier Screening, Genetics, High-Throughput Nucleotide Sequencing, Humans, Mass Screening, Metabolism, Inborn Errors, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1aafe9352e7ac510aebb5498634bbc40Test
https://doi.org/10.1002/jimd.12505Test

7

The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects

المؤلفون: Han G. Brunner, Ephrat Levy-Lahad, Chris Tyler-Smith, Massimo Mezzavila, Christian Gilissen, Reedik Mägi, Andres Metspalu, Yali Xue, Reidar Andreson, Shai Carmi, Hila Fridman, Helger G. Yntema

المساهمون: RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, MUMC+: DA Klinische Genetica (5)

المصدر: American Journal of Human Genetics, 108, 608-619
American Journal of Human Genetics, 108(4), 608-619. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 108, 4, pp. 608-619

مصطلحات موضوعية: Male, at-risk couples, autosomal recessive disorders, carrier frequency, pre-conception carrier screening, selection, Cohort Studies, Europe, Exome, Female, Genes, Recessive, Genetic Testing, Genetic Variation, Health, Heterozygote, Humans, Intellectual Disability, Whites, Consanguinity, Family Characteristics, Phenotype, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Genetics (clinical), Genetics, 0303 health sciences, education.field_of_study, 030305 genetics & heredity, Genetic disorder, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], GENOME, GENES, GENETICS, Population, Biology, Article, White People, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, medicine, Recessive, Allele, education, Gene, 030304 developmental biology, Carrier signal, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], MUTATIONS, medicine.disease, Genetic architecture