226 results on '"Miny, Peter"'
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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. Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
5. Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies
6. Chromosomale und nicht-chromosomale Syndrome
7. Morphologic and GATA1 sequencing analysis of hematopoiesis in fetuses with trisomy 21
8. Pränatale Diagnostik
9. mRNA transfection-based, feeder-free, induced pluripotent stem cells derived from adipose tissue of a 50-year-old patient
10. Documentation
11. Genetic disabilities — predictive diagnosis, gene therapy and communal care
12. Die aktuellen Möglichkeiten der pränatalen Diagnostik und Therapie
13. Strφmme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
14. How genomics is changing the practice of prenatal testing
15. 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)
16. Assessing the Chromosome Copy Number in Metaphase II Oocytes by Sequential Fluorescence in Situ Hybridization
17. Authorʼs reply to Toutainʼs correspondence
18. aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis
19. Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel–Giedion syndrome
20. Expanding the spectrum of SMAD3 ‐related phenotypes to agnathia‐otocephaly
21. Mosaic ring chromosome 8: Clinical and array-CGH findings in partial trisomy 8
22. Genetic communication between fetus and mother: short- and long-term consequences
23. Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism
24. Genetic factors in lissencephaly syndromes: a review
25. Application of MLPA (multiplex ligation-dependent probe amplification) in fetuses with an abnormal sonogram and normal karyotype
26. Developments in laboratory techniques for prenatal diagnosis
27. Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications
28. Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies
29. APPLICATION OF MLPA (MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION) IN FETUSES WITH AN ABNORMAL SONOGRAM AND NORMAL KARYOTYPE
30. APPLICATION OF MLPA (MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION) IN FETUSES WITH AN ABNORMAL SONOGRAM AND NORMAL KARYOTYPE
31. Giant ectopic liver, hepatocellular carcinoma and pachydermia-a rare genetic syndrome?
32. Health Problems of the Turkish Minority in Germany: Experiences with a Prenatal ß Thalassaemia Detection Programme
33. Indications and methods for antenatal chromosome analysis: more choices require more appropriate selection
34. Magnetic cell sorting and the transferrin receptor as potential means of prenatal diagnosis from maternal blood
35. Benefits of placental biopsies for rapid karotyping in the second and third trimesters (late chorionic villus sampling) in high-risk pregnancies
36. Foetal Diagnosis
37. Wissen können, dürfen, wollen?: Genetische Untersuchungen während der Schwangerschaft
38. Genetische Tests und ihre Konsequenzen : zwischen Hoffnung und Hype
39. 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?
40. Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene
41. Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene
42. Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene
43. Interstitial Deletion 4q due to a Complex Rearrangement Involving Chromosomes 1, 2, 4, 8, 14 and 16.
44. Erhöhte fetale Nackentransparenz – auch ein Risiko für seltene submikroskopische Chromosomenstörung
45. 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?
46. Empfehlungen zur Durchführung von Gentests bei Patienten mit multipler endokriner Neoplasie (MEN)
47. Pränatale Diagnostik
48. 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
49. Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature
50. Chromosomal Microarrays in Prenatal Diagnosis: Time for a Change of Policy?
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