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Journal of Risk Research, ISSN 1366-9877, 02/2018, Volume 21, Issue 2, pp. 117 - 128
The relatively novel and dynamic science of genomics holds many unknowns for stakeholders, and in particular for researchers and clinicians, as well as for... 
taxonomy of uncertainty | genomics | incidental findings | genetics | uncertainty | ISSUES | EXOME | INFORMED-CONSENT | RECOMMENDATIONS | HEALTH | SOCIAL SCIENCES, INTERDISCIPLINARY | STRATEGIES | Taxonomy | Uncertainty | Genomics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinsk etik | Hälsovetenskaper | Medical Ethics | Health Sciences
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2007, Volume 39, Issue 9, pp. 1134 - 1139
Journal Article
Acta Obstetricia et Gynecologica Scandinavica, ISSN 0001-6349, 01/2017, Volume 96, Issue 1, pp. 7 - 18
Journal Article
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 04/2018, Volume 33, Issue 4, pp. 753 - 760
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2014, Volume 9, Issue 1, p. e85313
In order to identify genetic causes of VACTERL association (V vertebral defects, A anorectal malformations, C cardiac defects, T tracheoesofageal fistula, E... 
HETEROTAXY | ESOPHAGEAL ATRESIA | MULTIDISCIPLINARY SCIENCES | CHD7 GENE | DISORDERS | PATIENT | IDENTIFICATION | FANCONI-ANEMIA | Limb Deformities, Congenital - genetics | Translocation, Genetic | Genetic Testing | Oligonucleotide Array Sequence Analysis | Humans | Molecular Sequence Data | Male | Spine - abnormalities | Heart Defects, Congenital - genetics | Base Sequence | Female | Fetus | DNA Helicases - genetics | Trachea - abnormalities | Amino Acid Sequence | Gene Expression | Fanconi Anemia Complementation Group Proteins - genetics | Gene Dosage | DNA-Binding Proteins - genetics | Esophagus - abnormalities | Hemizygote | Anal Canal - abnormalities | Limb Deformities, Congenital - diagnosis | Comparative Genomic Hybridization | Kidney - abnormalities | Heart Defects, Congenital - diagnosis | Cytogenetics | Genetic aspects | Comparative analysis | Health aspects | Genes | Pediatrics | Laboratories | Childrens health | Hybridization | Gene deletion | Defects | Genotype & phenotype | Ultrasonic imaging | Alterations | Clonal deletion | Etiology | Surgery | Deletion | Genetics | Heart diseases | Drug dosages | Deoxyribonucleic acid--DNA | Translocation | Vertebrae | Congenital diseases | Kidneys | Deformation mechanisms | Anemia | Fetuses | Fistulae | Anorectal | Gene expression | Medical screening | Patients | Esophagus | Children & youth | Medicine | Studies | Screening | Pathology | Hospitals | DNA microarrays | Genetic counseling | Mutation | Kidney transplantation | Medical and Health Sciences | Medicin och hälsovetenskap | Deoxyribonucleic acid | DNA
Journal Article
Molecular Cytogenetics, ISSN 1755-8166, 08/2015, Volume 8, Issue 1, p. 67
Background: Trisomy 21 Down syndrome is the most common genetic cause for congenital malformations and intellectual disability. It is well known that in the... 
Trisomy 21 | Paternal origin | Spermatozoa | Disomy 21 | Fluorescence in situ hybridisation (FISH) | Down syndrome | Chromosome copy number | SPERMATOGENESIS | ERRORS | MECHANISMS | GENETICS & HEREDITY | SPERM ANEUPLOIDY | AGE | MOSAICISM | Parenting | Birth defects
Journal Article