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Peter Miny | doi.page

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Peter Miny

University Hospital of Basel(CH)

Publications by Year

Research Areas

Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, Fetal and Pediatric Neurological Disorders, Assisted Reproductive Technology and Twin Pregnancy, Congenital Anomalies and Fetal Surgery

Most-Cited Works

→ The mutation spectrum in RECQL4 diseases(2008)231 cited
→ Detection of Fetal Trisomies 21 and 18 From Maternal Blood Using Triple Gradient and Magnetic Cell Sorting(1993)197 cited
→ Magnetic cell sorting and the transferrin receptor as potential means of prenatal diagnosis from maternal blood(1992)138 cited
→ Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionals†(2002)133 cited
→ Postnatal follow‐up of prenatally diagnosed trisomy 16 mosaicism(2006)130 cited
→ Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel–Giedion syndrome(2010)123 cited

→ Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype(2013)

105 cited

→ Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene(2000)95 cited

→ aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis(2011)86 cited

→ Mosaic ring chromosome 8: Clinical and array‐CGH findings in partial trisomy 8(2008)73 cited