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4. Strφmme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF

5. Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies.

6. 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. How genomics is changing the practice of prenatal testing.

17. Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications

18. Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies

19. APPLICATION OF MLPA (MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION) IN FETUSES WITH AN ABNORMAL SONOGRAM AND NORMAL KARYOTYPE

20. Giant ectopic liver, hepatocellular carcinoma and pachydermia-a rare genetic syndrome?

22. Expanding the spectrum of SMAD3‐related phenotypes to agnathia‐otocephaly.

23. APPLICATION OF MLPA (MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION) IN FETUSES WITH AN ABNORMAL SONOGRAM AND NORMAL KARYOTYPE.

24. Interstitial Deletion 4q due to a Complex Rearrangement Involving Chromosomes 1, 2, 4, 8, 14 and 16.

25. Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

28. Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature.

29. 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.

30. Chromosomal Microarrays in Prenatal Diagnosis: Time for a Change of Policy?

33. Microarray-Based Maps of Copy-Number Variant Regions in European and Sub-Saharan Populations.

34. The mutation spectrum in RECQL4 diseases.

35. UPPER LIMB AMELIA, FACIAL CLEFTS, HOLOPROSENCEPHALY, AND INTERRUPTED AORTIC ARCH.

36. Genetic testing services in Europe: Quality assurance and policy issues.

46. Characterization of an immortalized human granulosa cell line (COV434).

48. A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis

49. High resolution array in the clinical approach to chromosomal phenotypes

50. Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene.

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