217 results on '"Miny, Peter"'
Search Results
2. Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
3. Exome sequencing of fetal anomaly syndromes: novel phenotype–genotype discoveries
4. Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies
5. Chromosomale und nicht-chromosomale Syndrome
6. Morphologic and GATA1 sequencing analysis of hematopoiesis in fetuses with trisomy 21
7. Pränatale Diagnostik
8. mRNA transfection-based, feeder-free, induced pluripotent stem cells derived from adipose tissue of a 50-year-old patient
9. Documentation
10. Genetic disabilities — predictive diagnosis, gene therapy and communal care
11. Die aktuellen Möglichkeiten der pränatalen Diagnostik und Therapie
12. Strφmme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
13. How genomics is changing the practice of prenatal testing
14. Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)
15. Assessing the Chromosome Copy Number in Metaphase II Oocytes by Sequential Fluorescence in Situ Hybridization
16. Authorʼs reply to Toutainʼs correspondence
17. aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis
18. Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel–Giedion syndrome
19. Expanding the spectrum of SMAD3 ‐related phenotypes to agnathia‐otocephaly
20. Mosaic ring chromosome 8: Clinical and array-CGH findings in partial trisomy 8
21. Genetic communication between fetus and mother: short- and long-term consequences
22. Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism
23. Genetic factors in lissencephaly syndromes: a review
24. Developments in laboratory techniques for prenatal diagnosis
25. Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies
26. Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications
27. APPLICATION OF MLPA (MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION) IN FETUSES WITH AN ABNORMAL SONOGRAM AND NORMAL KARYOTYPE
28. APPLICATION OF MLPA (MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION) IN FETUSES WITH AN ABNORMAL SONOGRAM AND NORMAL KARYOTYPE
29. Giant ectopic liver, hepatocellular carcinoma and pachydermia-a rare genetic syndrome?
30. Foetal Diagnosis
31. Health Problems of the Turkish Minority in Germany: Experiences with a Prenatal ß Thalassaemia Detection Programme
32. Indications and methods for antenatal chromosome analysis: more choices require more appropriate selection
33. Magnetic cell sorting and the transferrin receptor as potential means of prenatal diagnosis from maternal blood
34. Benefits of placental biopsies for rapid karotyping in the second and third trimesters (late chorionic villus sampling) in high-risk pregnancies
35. Wissen können, dürfen, wollen?: Genetische Untersuchungen während der Schwangerschaft
36. Genetische Tests und ihre Konsequenzen : zwischen Hoffnung und Hype
37. Additional file 1: Table S1. of Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?
38. Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene
39. Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene
40. Erhöhte fetale Nackentransparenz – auch ein Risiko für seltene submikroskopische Chromosomenstörung
41. Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?
42. Interstitial Deletion 4q due to a Complex Rearrangement Involving Chromosomes 1, 2, 4, 8, 14 and 16.
43. Empfehlungen zur Durchführung von Gentests bei Patienten mit multipler endokriner Neoplasie (MEN)
44. Pränatale Diagnostik
45. Gene Expression Profiles of Similarly Derived Human Embryonic Stem Cell Lines Correlate with Their Distinct Propensity to Exit Stemness and Their Different Differentiation Behavior in Culture
46. Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature
47. Chromosomal Microarrays in Prenatal Diagnosis: Time for a Change of Policy?
48. Genetische Untersuchungen während der Schwangerschaft und beim Kind
49. TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability
50. High resolution array in the clinical approach to chromosomal phenotypes
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