23 results on '"Miny, Peter"'
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2. Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene
3. Author's reply to Toutain's correspondence
4. Fetal Polydactyly
5. aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis
6. Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome
7. Familial 14.5 Mb interstitial deletion 13q21.1–13q21.33: Clinical and array‐CGH study of a benign phenotype in a three‐generation family
8. Mosaic ring chromosome 8: Clinical and array-CGH findings in partial trisomy 8
9. Postnatal follow‐up of prenatally diagnosed trisomy 16 mosaicism
10. First trimester maternal serum α-fetoprotein screening for Down syndrome and other aneuploidies
11. Y chromosomal polysomy: A unique case of 49,XYYYY in amniotic fluid cells
12. Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionals†
13. Low rates of pregnancy termination for prenatally diagnosed Klinefelter syndrome and other sex chromosome polysomies
14. Congenital heart disease in the 48,XXYY syndrome
15. Detection of Fetal Trisomies 21 and 18 From Maternal Blood Using Triple Gradient and Magnetic Cell Sorting
16. Distal limb deficiency following chorionic villus sampling?
17. Validity of cytogenetic analyses from trophoblast tissue throughout gestation
18. Rapid karyotyping for prenatal diagnosis in the second and third trimesters of pregnancy
19. Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome
20. Maternal cell contamination in chorionic villi cultures ‐ Exclusion by chromosomal fluorescence polymorphisms
21. Estimating frequency of Kallmann syndrome among hypogonadic and among anosmic patients
22. Cardiac defects in chromosomally abnormal human embryos of 10–14 weeks' gestation
23. Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionals.
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