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

Clinical genetics, 2014-09, Vol.86 (3), p.220-228

2014

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Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene

Forensic science international, 2017-06, Vol.275, p.187-194

2017

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Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism

Clinical genetics, 2011-01, Vol.79 (1), p.79-85

2011

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Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome

Journal of medical genetics, 2004-08, Vol.41 (8), p.609-614

2004

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International, collaborative assessment of 146 000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used

Human reproduction (Oxford), 1999-05, Vol.14 (5), p.1213-1216

1999

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Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel–Giedion syndrome

Journal of medical genetics, 2011-02, Vol.48 (2), p.117-122

2011

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Medizinische Genetik: Die Chromosomenuntersuchung - auf dem Weg vom Mikroskop zum Array-Scanner

Swiss medical forum, 2006-12, Vol.6 (51)

Miny, P

2006

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Dihydropyrimidine Dehydrogenase Deficiency Caused by a Novel Genomic Deletion c.505_513del of DPYD

Nucleosides, nucleotides & nucleic acids, 2010-06, Vol.29 (4-6), p.509-514

2010

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Präimplantationsdiagnostik weltweit

Gynäkologie (Heidelberg, Germany), 2014-08, Vol.47 (8), p.571-576

2014

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

Journal of medical genetics, 2000-04, Vol.37 (4), p.281-286

2000

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Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053 K mutation and a deletion in the SCN5A gene

Forensic science international, 2017

2017

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Zukunft des Aneuploidiescreenings

Gynäkologie (Heidelberg, Germany), 2014-04, Vol.47 (4), p.263-270

2014

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Medizinische Genetik: Visionen zur Zukunft der Genommedizin und Frustrationen im Hier und Jetzt

Swiss medical forum, 2004-01, Vol.4 (1)

Miny, P

2004

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Myomectomy during the first trimester associated with fetal limb anomalies and hydrocephalus in a twin pregnancy

Prenatal diagnosis, 2001-10, Vol.21 (10), p.848-851

2001

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Fanconi anemia associated with increased nuchal translucency detected by first‐trimester ultrasound

Ultrasound in obstetrics & gynecology, 2001-02, Vol.17 (2), p.160-162

2001

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Mosaic ring chromosome 3 in a child with epilepsy and developmental delay

Neuropediatrics, 2012, Vol.43 (2)

2012

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First successful pregnancy in Switzerland after prospective sex determination of the embryo through the separation of X-chromosome bearing spermatozoa

Swiss medical weekly, 2013-02, Vol.143, p.w13718

2013

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Medizinische Genetik 2001: Pränatale Chromosomendiagnostik

Swiss medical forum, 2001-12

Miny, P

2001

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Génetique médicale: Lexamen des chromosomes - du microscope à larray-scanner

Forum médical suisse (En ligne), 2006-12, Vol.6 (51)

Miny, P

2006

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Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism

Prenatal diagnosis, 2006-06, Vol.26 (6), p.548-558

2006

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Prenatal diagnosis of Wolf-Hirschhorn-syndrome (4p-)

Ultraschall in der Medizin, 2008, Vol.29 (S 2)

2008

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Fetal cells in maternal circulation throughout gestation

The Lancet (British edition), 1994-04, Vol.343 (8904), p.1038-1039

1994

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Prenatal diagnosis and management of fetal hydrocephaly and lissencephaly

Child's nervous system, 1993-11, Vol.9 (7), p.408-412

1993

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The long-term effect of external quality assessment on performance in service cytogenetics

Cytogenetic and genome research, 2000-01, Vol.91 (1-4), p.124-127

2000

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A novel syndrome involving primary skeletal growth and retardation in siblings

Clinical dysmorphology, 2001-01, Vol.10 (1), p.33-36

2001

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

Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene

Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism

Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome

International, collaborative assessment of 146 000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used

Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel–Giedion syndrome

Medizinische Genetik: Die Chromosomenuntersuchung - auf dem Weg vom Mikroskop zum Array-Scanner

Dihydropyrimidine Dehydrogenase Deficiency Caused by a Novel Genomic Deletion c.505_513del of DPYD

Präimplantationsdiagnostik weltweit

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

Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053 K mutation and a deletion in the SCN5A gene

Zukunft des Aneuploidiescreenings

Medizinische Genetik: Visionen zur Zukunft der Genommedizin und Frustrationen im Hier und Jetzt

Myomectomy during the first trimester associated with fetal limb anomalies and hydrocephalus in a twin pregnancy

Fanconi anemia associated with increased nuchal translucency detected by first‐trimester ultrasound

Mosaic ring chromosome 3 in a child with epilepsy and developmental delay

First successful pregnancy in Switzerland after prospective sex determination of the embryo through the separation of X-chromosome bearing spermatozoa

Medizinische Genetik 2001: Pränatale Chromosomendiagnostik

Génetique médicale: Lexamen des chromosomes - du microscope à larray-scanner

Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism

Prenatal diagnosis of Wolf-Hirschhorn-syndrome (4p-)

Fetal cells in maternal circulation throughout gestation

Prenatal diagnosis and management of fetal hydrocephaly and lissencephaly

The long-term effect of external quality assessment on performance in service cytogenetics

A novel syndrome involving primary skeletal growth and retardation in siblings

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