19 results on '"Hochstenbach R"'
Search Results
2. Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18
3. Gain of FAM123B and ARHGEF9 in an Obese Man with Intellectual Disability, Congenital Heart Defects and Multiple Supernumerary Ring Chromosomes
4. Changes in yearly birth prevalence rates of children with Down syndrome in the period 1986-2007 in the Netherlands
5. Genome Arrays for the Detection of Copy Number Variations in Idiopathic Mental Retardation, Idiopathic Generalized Epilepsy and Neuropsychiatric Disorders: Lessons for Diagnostic Workflow and Research
6. Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders
7. Inherited unbalanced structural chromosome abnormalities at prenatal chromosome analysis are rarely ascertained through recurrent miscarriage
8. P.1.14 Submicroscopic duplications in the Prader-Willi/Angelman region on chromosome 15 detected with high resolution array comparative genomic hybridization
9. Variant Klinefelter syndrome 47,X,i(X)(q10),Y and normal 46,XY karyotype in monozygotic adult twins
10. Congenital diaphragmatic hernia associated with duplication of 11q23-qter
11. S.07.05 Autism candidate genes in cytogenetic regions of interest identified with a gene interaction network
12. P11: Loci of shared segmental aneuploidy in the genomes of healthy and mentally retarded subjects detected by Array-CGH
13. Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA)
14. Supernumerary ring chromosome 7 mosaicism: Case report, investigation of the gene content, and delineation of the phenotype
15. Kinetics of meiosis in azoospermic males: a joint histological and cytological approach
16. Diploid/triploid mosaicism in dysmorphic patients
17. The promoter of a gene that is expressed only in pollen interacts with ubiquitous transcription factors
18. Constructing balancer chromosomes for genetic screens in Drosophila hydei
19. Toward early diagnosis of myotonic dystrophy:construction and characterization of a somatic cell hybrid with a single human der(19) chromosome
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