المؤلفون: Charles E. Schwartz, Margaret R. Wallace, C. R. Abernathy, V. T. Ho, Steven D. Colman, L Weiss, Sonja A. Rasmussen, Robert A. Saul, P H Arn

المصدر: Journal of medical genetics. 35(6)

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Genotype, Centromere, Biology, medicine.disease_cause, Polymerase Chain Reaction, Genetic determinism, Nuclear Family, Loss of heterozygosity, Exon, Intellectual Disability, Genes, Neurofibromatosis 1, Genetics, medicine, Humans, Allele, Neurofibromatosis, Child, neoplasms, Genetics (clinical), Mutation, Mosaicism, Chromosome, Exons, Telomere, medicine.disease, eye diseases, Introns, nervous system diseases, Pedigree, Female, Gene Deletion, Polymorphism, Restriction Fragment Length, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::033bcb0a084a2d19a8e84af8cf33a2f7Test
https://pubmed.ncbi.nlm.nih.gov/9643287Test

المؤلفون: Seth D. Crosby, Lionel Willatt, Elena Rossi, N. Van der Aa, Orsetta Zuffardi, Michael D. McLellan, Ana Cristina Victorino Krepischi-Santos, Lisenka E.L.M. Vissers, H. Stewart, Angela Maria Vianna-Morgante, Michael Field, Susan Price, Jane A. Hurst, Bernard Grisart, Andrew J. Sharp, J. Wagenstaller, Anne Destree, L. L. Antonacci-Fulton, Liesbeth Rooms, Alice Goldenberg, Swaroop Aradhya, Pino J. Poddighe, Evan E. Eichler, B. B. A. de Vries, M. A. Wiechert, Pascale Saugier-Veber, Roberto Ciccone, J. M. Garrett, Andrew O.M. Wilkie, Melanie A. Manning, R. Pfundt, Helen V. Firth, M. De Gregori, Tracie L. Miner, Joris A. Veltman, Samantha J. L. Knight, Martin Zenker, Charles Shaw-Smith, Kathleen Bell, Carla Rosenberg, Han G. Brunner, David A. Koolen, Małgorzata J.M. Nowaczyk, Anna Hackett, Anita Rauch, Grazia M.S. Mancini, C. E. Schwartz, T. M. Strom

المساهمون: Clinical Genetics, Pathology

المصدر: Journal of Medical Genetics, 45, 11, pp. 710-20
Journal of medical genetics
Journal of Medical Genetics, 45, 710-20
Journal of Medical Genetics, 45(11), 710-720. BMJ Publishing Group

مصطلحات موضوعية: Male, Genetics and epigenetic pathways of disease [NCMLS 6], Developmental Disabilities, Medizinische Fakultät, Genomic Segment, Prevalence, Child, Genetics (clinical), Chromosomal inversion, Oligonucleotide Array Sequence Analysis, Genetics, 0303 health sciences, 030305 genetics & heredity, Microdeletion syndrome, Hypotonia, Child, Preschool, Muscle Hypotonia, Female, medicine.symptom, Chromosome Deletion, Functional Neurogenomics [DCN 2], Adult, Adolescent, Koolen De Vries syndrome, tau Proteins, Biology, Polymorphism, Single Nucleotide, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Young Adult, Translational research [ONCOL 3], medicine, Humans, Abnormalities, Multiple, ddc:610, 030304 developmental biology, Breakpoint, Chromosome, Infant, medicine.disease, 17q21.31 microdeletion syndrome, Genetic defects of metabolism [UMCN 5.1], Face, Chromosome Inversion, Human medicine, Chromosomes, Human, Pair 17, Immunity, infection and tissue repair [NCMLS 1]

وصف الملف: pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cc55679bc8984ef8ec82a122c027f27Test
http://ora.ox.ac.uk/objects/uuid:086504d4-1f86-4092-8ad9-4cdf44f007c2Test

المؤلفون: Thaddeus E. Kelly, Ramla Saif, Susan H. Blanton, Sami A. Sanjad, Nadia Sakati

المصدر: Journal of medical genetics. 37(1)

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Hypoparathyroidism, Saudi Arabia, Locus (genetics), Genetic linkage, Genetics, medicine, Humans, Family, Child, Letters to the Editor, Genetics (clinical), Growth Disorders, Congenital hypoparathyroidism, Lod score, Fetal Growth Retardation, business.industry, Postnatal growth retardation, Chromosome, Chromosome Mapping, DNA, Syndrome, medicine.disease, Research centre, Chromosomes, Human, Pair 1, Face, Female, Lod Score, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4f938378c351e1d7c1391ada1d8f47eTest
https://pubmed.ncbi.nlm.nih.gov/10691411Test