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: 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