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Lancet, The, ISSN 0140-6736, 2012, Volume 380, Issue 9854, pp. 1674 - 1682
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2012, Volume 158A, Issue 7, pp. 1709 - 1712
Journal Article
medizinische genetik, ISSN 0936-5931, 12/2014, Volume 26, Issue 4, pp. 405 - 410
Innerhalb kürzester Zeit haben Hochdurchsatzanalysen von Exomen und Genomen Eingang in die postnatale klinisch-diagnostische Anwendung gefunden. Bei hoher... 
Human Genetics | Next generation sequencing (NGS) | Pediatrics | Pränataldiagnostik | Prenatal diagnostics | Schwangerschaft | Preconception screening | Präkonzeptionelles Screening | Pregnancy | Medicine & Public Health | Obstetrics/Perinatology | Next generation sequencing“ (NGS) | Reproductive Medicine
Journal Article
medizinische genetik, ISSN 0936-5931, 12/2014, Volume 26, Issue 4, p. 405
Hintergrund Abgeleitet von den Erfahrungen mit NGS-Analysen im postnatalen diagnostischen Ansatz erfolgen eine Ubertragung und ein Ausblick auf die Anwendung... 
Family planning | Pregnant women | Genomics | Genetic research
Journal Article
Brain, ISSN 0006-8950, 2013, Volume 136, Issue 12, pp. 3634 - 3644
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2017, Volume 173, Issue 10, pp. 2763 - 2771
Journal Article
PL o S Genetics (Online), ISSN 1553-7390, 03/2017, Volume 13, Issue 3, p. e1006683
textabstractSchinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and... 
ASXL1 | TRANSFORMATION | RECURRENT | ABNORMALITIES | DISTINCT | GENETICS & HEREDITY | JUVENILE MYELOMONOCYTIC LEUKEMIA | CANCER-RISK | CSF3R T618I | MYELODYSPLASTIC SYNDROME | CHRONIC MYELOID-LEUKEMIA | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Humans | Child, Preschool | Infant | Male | Gene Expression Profiling | Hematologic Neoplasms - pathology | Nails, Malformed - pathology | Intellectual Disability - genetics | Intellectual Disability - metabolism | Cell Transformation, Neoplastic - genetics | HEK293 Cells | Hand Deformities, Congenital - metabolism | Germ-Line Mutation | Craniofacial Abnormalities - pathology | Female | Nuclear Proteins - genetics | Child | Craniofacial Abnormalities - metabolism | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Hematologic Neoplasms - metabolism | Infant, Newborn | Cell Line | Cell Proliferation - genetics | Genetic Predisposition to Disease - genetics | Genetic Association Studies | Nails, Malformed - metabolism | Intellectual Disability - pathology | Nuclear Proteins - metabolism | Blotting, Western | Nails, Malformed - genetics | Carrier Proteins - genetics | Phenotype | Carrier Proteins - metabolism | Hand Deformities, Congenital - genetics | Hematologic Neoplasms - genetics | Mutation | Hand Deformities, Congenital - pathology | Cell proliferation | Genetic aspects | Research | Gene mutations | Schinzel-Giedion syndrome | Leukemia | Health sciences | Pediatrics | Neurosciences | Laboratories | Hot spots | Genomics | Genomes | Malignancy | Clustering | Patients | Incidence | Children & youth | Medicine | Pathology | Hospitals | Language | Genetics | Life sciences | In vitro methods and tests | Cancer
Journal Article
Archives of Gynecology and Obstetrics, ISSN 0932-0067, 8/2016, Volume 294, Issue 2, pp. 219 - 224
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 05/2011, Volume 19, Issue 5, pp. 507 - 512
Xq28 duplications including MECP2 are a well-known cause of severe mental retardation in males with seizures, muscular hypotonia, progressive spasticity, poor... 
MECP2 | X-inactivation | Xq28 duplication | Mental retardation in females | mental retardation in females | INFECTIONS | AUTISM | RETT-SYNDROME | BIOCHEMISTRY & MOLECULAR BIOLOGY | SYMPTOMS | FEATURES | REGION | GENE | XQ28 | GENETICS & HEREDITY | Gene Duplication | Humans | Adolescent | Female | Child | Methyl-CpG-Binding Protein 2 - genetics | Intellectual Disability - genetics | X Chromosome Inactivation
Journal Article