المؤلفون: Helen Stewart, Patricia A. Jacobs, David A. Koolen, Christelle Borel, Andrew J. Sharp, Stephan Eliez, N. Simon Thomas, Fanny Cheung, Christopher Phillips

المصدر: Human Genetics, Vol. 131, No 9 (2012) pp. 1519-24
Human genetics
Human Genetics, 131, 1519-24
Human Genetics, 131, 9, pp. 1519-24

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Non-allelic homologous recombination, Genetic Diseases, Inborn/genetics, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], ddc:616.89, 03 medical and health sciences, Nondisjunction, Genetic, Angelman syndrome, Genotype, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetics (clinical), X chromosome, PRDM9, 030304 developmental biology, 0303 health sciences, 030305 genetics & heredity, Genetic Diseases, Inborn, Genetic Variation, Genomics, Microdeletion syndrome, medicine.disease, Genotype frequency, Trisomy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77079db7956ac29117bd517195514444Test
https://doi.org/10.1007/s00439-012-1180-4Test

المؤلفون: Merel A.W. Oortveld, Ellen A.W. Blokland, Frans P.M. Cremers, Erik Huys, Jyoti Agrawal, C. Erik van Nouhuys, Dominique Smeets, Eric F.P.M. Schoenmakers, Dorien Lugtenberg, Annette Schenck, Gerard Merkx, Jamie M. Kramer, Arijit Mukhopadhyay, Ad Geurts van Kessel, Hans van Bokhoven

المصدر: Human Genetics
Human Genetics, 128, 281-91
Human Genetics, 128, 3, pp. 281-91

مصطلحات موضوعية: Adult, Microcephaly, Pathology, medicine.medical_specialty, Genetics and epigenetic pathways of disease [NCMLS 6], Biology, Retina, Genomic disorders and inherited multi-system disorders [IGMD 3], Species Specificity, Intellectual Disability, Genetics, medicine, Animals, Drosophila Proteins, Humans, Genetics(clinical), Abnormalities, Multiple, In Situ Hybridization, Fluorescence, Genetics (clinical), DNA Primers, Original Investigation, Chromosomal inversion, Base Sequence, medicine.diagnostic_test, Genetic heterogeneity, Breakpoint, Cyclin-Dependent Kinase 8, medicine.disease, Cyclin-Dependent Kinases, Karyotyping, Chromosome Inversion, Eye development, Chromosomes, Human, Pair 6, Drosophila, Female, Falciform retinal fold, Haploinsufficiency, Functional Neurogenomics [DCN 2], Fluorescence in situ hybridization

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e261eabaee4e65e7945e7f215b3b08cTest
https://doi.org/10.1007/s00439-010-0848-xTest

المؤلفون: George M. Martin, Norberto López, Kivanc Cefle, Davor Lessel, Sukru Ozturk, Junko Oshima, Joerg Schmidtke, P. F. Ippel, Bhaskar Saha, Gudrun Nürnberg, Joseph Boak, Fuki M. Hisama, Dru F. Leistritz, Daniel Eyman, Martin Poot, Katrin Friedrich, Holger Hoehn, Dincy Peter, María J. Garcia-F-Villalta, Lin Lee, Theda Wessel, Carolien M. Kets, Peter Nürnberg, Peter C. van den Akker, Christian Kubisch, Vítor Tedim Cruz, Birgit Groff-Kellermann, Chumei Li, Goli Compoginis

المساهمون: Translational Immunology Groningen (TRIGR)

المصدر: Human Genetics, 128, 103-11
HUMAN GENETICS, 128(1), 103-111. SPRINGER
Human Genetics, 128, 1, pp. 103-11

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Werner Syndrome Helicase, Mutation, Missense, Locus (genetics), VARIANTS, SYNDROME GENE, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Chromosome Breakpoints, Exon, NEUREGULIN-1, SCHIZOPHRENIA, Genetics, medicine, Humans, EPIDEMIOLOGY, Missense mutation, SYNDROME LOCUS, education, Genetics (clinical), Werner syndrome, education.field_of_study, RecQ Helicases, IDENTIFICATION, biology, NUCLEAR-LOCALIZATION, DNA HELICASE, nutritional and metabolic diseases, Helicase, medicine.disease, Founder Effect, Introns, SYNDROME PROTEIN, Human genetics, Exodeoxyribonucleases, Mutation, biology.protein, Female, Werner Syndrome, Founder effect

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13b70c3168e5331a43b20253ab0c5c8fTest
https://doi.org/10.1007/s00439-010-0832-5Test

المؤلفون: Jyoti S Shetty, Maheswara R Duvvari, Venkatesh C. Prabhakaran, Gowri J Murthy, Susan H. Blanton, Arun Kumar

المصدر: Human Genetics, 128, 4, pp. 365-71
Human Genetics, 128, 365-71

مصطلحات موضوعية: Marfan syndrome, Male, Genetics and epigenetic pathways of disease [NCMLS 6], DNA Mutational Analysis, Molecular Sequence Data, India, Locus (genetics), Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Exon, Consanguinity, Gene duplication, Lens, Crystalline, Genetics, medicine, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Eye Abnormalities, Gene, Genetics (clinical), Chromosomes, Human, Pair 14, Family Health, Base Sequence, Genetic heterogeneity, Homozygote, Chromosome Mapping, Exons, medicine.disease, Pedigree, Microspherophakia, Latent TGF-beta Binding Proteins, Genetic Loci, Mutation, Female, Congenital disorder, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92534e2be8e4346855b513ff382e473eTest
https://pubmed.ncbi.nlm.nih.gov/20617341Test

المؤلفون: Martinus F. Niermeijer, Nienke Essed, Dennis Dooijes, Aida M. Bertoli-Avella, Lotte E. de Groot-de Laat, Ingrid F. M. Frohn-Mulder, J. W. Wladimiroff, Folkert J. ten Cate, Patrick J. Willems, Margot M. Bartelings, Ronald R. de Krijger, Peter Heutink, Titia E. Cohen-Overbeek, Ben A. Oostra, Bianca M. de Graaf, S.E.C. Spitaels, Marja W. Wessels

المساهمون: Human genetics, Neuroscience Campus Amsterdam 2008, Clinical Genetics, Obstetrics & Gynecology, Cardiology, Pediatrics, Pathology

المصدر: Human Genetics, 122(6), 595-603. Springer Verlag
Wessels, M W, de Graaf, B M, Cohen-Overbeek, T E, Spitaels, S E, de Groot-de Laat, L, ten Cate, F J, Frohn-Mulder, I F M, de Krijger, R, Bartelings, M M, Essed, N, Wladimiroff, J W, Niermeijer, M F, Heutink, P, Oostra, B A, Dooijes, D, Bertoli-Avella, A M & Willems, P J 2008, ' A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p ', Human Genetics, vol. 122, no. 6, pp. 595-603 . https://doi.org/10.1007/s00439-007-0436-xTest
Human Genetics, 122, 595-603. Springer-Verlag
Human Genetics, 122, 595-603
Human Genetics, 122, 6, pp. 595-603

مصطلحات موضوعية: Adult, Male, Noncompaction cardiomyopathy, medicine.medical_specialty, Genetic Linkage, Sinus bradycardia, Cardiomyopathy, Biology, Inferior vena cava, Heart Septal Defects, Atrial, Genomic disorders and inherited multi-system disorders [IGMD 3], Pregnancy, Internal medicine, Prenatal Diagnosis, Genetics, medicine, Bradycardia, Humans, Family, Genetics (clinical), Heart septal defect, Triplets, Infant, Newborn, Chromosome Mapping, Syndrome, Middle Aged, medicine.disease, Pedigree, Pulmonary Valve Stenosis, Endocrinology, medicine.vein, Genetic defects of metabolism [UMCN 5.1], Child, Preschool, Pulmonary valve stenosis, Mutation, Cardiology, cardiovascular system, Polysplenia, Chromosomes, Human, Pair 6, Female, medicine.symptom, Cardiomyopathies, Heterotaxy, Intestinal Volvulus

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c440690e6bf876dd6090e8c4b138cf2Test
https://pubmed.ncbi.nlm.nih.gov/17938964Test

المؤلفون: Shaw-Smith, Charles¹ css@sanger.ac.uk

المصدر: Human Genetics. Jun2007, Vol. 121 Issue 5, p639-640. 2p.

مصطلحات موضوعية: *GENOMICS, *NONFICTION

Reviews & Products: GENOMIC Disorders: The Genomic Basis of Disease (Book)

People: LUPSKI, J. R., STANKIE, P. T.