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المؤلفون: A. A. M. Haagen, A. J. H. Hamers, E. J. M. Raven, W.H. Loneus, J. C. M. Albrechts, C. E. M. De Die-Smulders, J. J. M. Engelen, Ute Moog
المصدر: Clinical Genetics. 46:423-429
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Chromosome Disorders, Trisomy, Biology, Chromosome 18, Intellectual Disability, Gene duplication, Centromere, Genetics, medicine, Humans, Abnormalities, Multiple, In Situ Hybridization, Fluorescence, Genetics (clinical), Segmental duplication, Chromosomal inversion, Chromosome Aberrations, Hybridization probe, Infant, Newborn, Syndrome, medicine.disease, Molecular biology, Chromosome Banding, Child, Preschool, Karyotyping, Chromosome Inversion, Female, Tandem exon duplication, Chromosomes, Human, Pair 18
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2
المؤلفون: J. Herbergs, W.H. Loneus, J. Nijhuis, J. J. M. Engelen, D Marcus-Soekarman, S. Velzeboer, Ctrm Schrander-Stumpel, C. E. M. De Die-Smulders, G. Hamers
المصدر: American Journal of Medical Genetics. :288-291
مصطلحات موضوعية: Genetics, Mosaicism, Chromosomes, Human, Pair 11, Infant, Newborn, Chromosome Disorders, Trisomy, Twins, Monozygotic, Biology, medicine.disease, Phenotype, Chromosome Banding, Karyotyping, medicine, Humans, Female, Presentation (obstetrics), In Situ Hybridization, Fluorescence, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df5188060dd59525313215d08b832c49
https://doi.org/10.1002/ajmg.a.20403 -
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المؤلفون: C. E. M. De Die-Smulders, A.G.P. Jetten, A. J. H. Hamers, J.F. Sanchez-Garcia, J. Weber, W.H. Loneus, J. J. M. Engelen
المصدر: American Journal of Medical Genetics. 100:56-61
مصطلحات موضوعية: Genetics, medicine.diagnostic_test, Psychomotor retardation, Chromosome, Anatomy, Biology, Chromosome microdissection, Chromosome aberration, Gene duplication, medicine, Flat occiput, medicine.symptom, Genetics (clinical), Microdissection, Fluorescence in situ hybridization
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::64b57023cd24f1771b8ae9fe069b8f1e
https://doi.org/10.1002/1096-8628(20010415)100:1<56::aid-ajmg1207>3.0.co;2-s -
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المؤلفون: M.G.P. Alofs, C.L.M. Marcelis, W.H. Loneus, C.F.M. Pulles-Heintzberger, J. J. M. Engelen, A. J. H. Hamers
المصدر: American Journal of Medical Genetics. 99:48-53
مصطلحات موضوعية: Genetics, Pathology, medicine.medical_specialty, medicine.diagnostic_test, Karyotype, Chromosomal translocation, Biology, medicine.disease, Chromosome 15, Chromosome regions, medicine, Trisomy, Chromosome 21, Genetics (clinical), Microdissection, Fluorescence in situ hybridization
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::91e8e2fd9dccb9ab0e0de35fa7d9517c
https://doi.org/10.1002/1096-8628(20010215)99:1<48::aid-ajmg1128>3.0.co;2-t -
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المؤلفون: Merryn V. E. Macville, Erik Huys, W.H. Loneus, April Schrank-Hacker, John J.M. Engelen, Beverly S. Emanuel, Eric F.P.M. Schoenmakers, D Marcus-Soekarman
المصدر: American Journal of Medical Genetics. Part A, 140, 18, pp. 1973-7
American Journal of Medical Genetics. Part A, 140, 1973-7مصطلحات موضوعية: Male, medicine.medical_specialty, Sex Determination Analysis, Genetics and epigenetic pathways of disease [NCMLS 6], Chromosomes, Human, Pair 22, Disorders of Sex Development, Biology, Article, Translocation, Genetic, Genetics, medicine, Sex Determination Process, Humans, Genetics (clinical), In Situ Hybridization, Fluorescence, Molecular diagnosis, prognosis and monitoring [UMCN 1.2], Chromosome Aberrations, Chromosomes, Human, X, Chromosomes, Human, Y, Extramural, Chromosomes, Human, Pair 11, Sex reversal, Sex Determination Processes, University hospital, humanities, Human genetics, Family medicine, Child, Preschool, Karyotyping, Medical genetics
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المؤلفون: Yvonne Arens, M. van der Blij-Philipsen, C.M. van Ravenswaay, W.H. Loneus, J. J. M. Engelen, A.J.H. Hamers, Ctrm Schrander-Stumpel, Lutgarde C.P. Govaerts, J.C.M. van Lent-Albrechts
المصدر: American Journal of Medical Genetics, 130A, 2, pp. 128-33
American Journal of Medical Genetics, 130A, 128-33مصطلحات موضوعية: Male, Proband, Heterozygote, Chromosomal translocation, Biology, Translocation, Genetic, Gene mapping, Gene Duplication, Chromosome regions, Gene duplication, medicine, Humans, In Situ Hybridization, Fluorescence, Genetics (clinical), Microdissection, Chromosome Aberrations, Family Health, Genetics, Psychomotor retardation, Chromosome, Chromosome Banding, Pedigree, Genetic defects of metabolism [UMCN 5.1], Karyotyping, Chromosomes, Human, Pair 5, Female, Chromosomes, Human, Pair 3, Chromosome Deletion, medicine.symptom
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98ae2deb173863cdb36b7317cd5e430a
https://hdl.handle.net/2066/58459 -
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المؤلفون: E.T.C.M. Gondrie, A.J.H. Hamers, W.H. Loneus, J. J. M. Engelen, M.G.P. Alofs, Yvonne Arens
المصدر: American journal of medical genetics. Part A. (3)
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Abortion, Habitual, Derivative chromosome, Marker chromosome, Biology, Translocation, Genetic, Chromosome 16, Chromosome 18, Pregnancy, Gene Duplication, Humans, Genetics (clinical), In Situ Hybridization, Fluorescence, Genetics, Chromosome 7 (human), Chromosome Aberrations, Chromosomes, Human, Y, Chromosome Banding, Chromosome 4, Phenotype, Karyotyping, Female, Chromosome 21, Chromosome 22
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المصدر: American Journal of Medical Genetics Part A. :276-277
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Developmental Disabilities, Cardiovascular Abnormalities, Biology, Craniofacial Abnormalities, Gene Duplication, Intellectual Disability, Gene duplication, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Growth Disorders, Genetics (clinical), Chromosome Aberrations, Cytogenetics, Persistent fetal fingertip pads, Syndrome, medicine.disease, Hypotonia, Cleft Palate, body regions, Clinical diagnosis, Kabuki make-up syndrome, medicine.symptom, Kabuki syndrome, Chromosomes, Human, Pair 8
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9دورية أكاديمية
المؤلفون: D. Marcus-Soekarman, G. Hamers, S. Velzeboer, J. Nijhuis, W.H. Loneus
المصدر: American Journal of Medical Genetics; 2004, Vol. 124 Issue 3, p288-291, 4p
مصطلحات موضوعية: TWINS, KARYOTYPES, CYTOGENETICS, SYNDROMES, PHENOTYPES, DISEASES in twins
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10دورية أكاديمية
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