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SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri–Weill dyschondrosteosis

Gene, 2012-01, Vol.491 (2), p.123-127

2012

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Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

Nature communications, 2015-01, Vol.6 (1), p.5614-5614, Article 5614

2015

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Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report

BMC nephrology, 2018-07, Vol.19 (1), p.163-163, Article 163

2018

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Meningocerebral Angiodysplasia: Post-Mortem Magnetic Resonance Imaging and Autopsy: A Case Report

The neuroradiology journal, 2009-08, Vol.22 (4), p.435-438

2009

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OP05.04: Non‐invasive diagnosis of RhD status and fetal gender from maternal plasma: our results from years 2008 to 2014

Ultrasound in obstetrics & gynecology, 2015-09, Vol.46 (S1), p.66-66

2015

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Foramina parietalia permagna: Report of nine cases in one family

Journal of paediatrics and child health, 1997-04, Vol.33 (2), p.168-170

1997

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GAPO syndrome (Radiographic clues to early diagnosis)

Radiologia medica, 1997-03, Vol.93 (3), p.289-291

1997

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Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the Czech population

Genetic testing and molecular biomarkers, 2011-09, Vol.15 (9), p.607

2011

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Lethal kyphomelic dysplasia

Journal of paediatrics and child health, 1996-04, Vol.32 (2), p.188-190

1996

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OP20.04: Detection of fetal major structural anomalies at the 11-14 ultrasound scan in an unselected population: Oral poster abstracts

Ultrasound in obstetrics & gynecology, 2009-09, Vol.34 (S1), p.125-126

2009

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OP20.04: Detection of fetal major structural anomalies at the 11–14 ultrasound scan in an unselected population

Ultrasound in obstetrics & gynecology, 2009-09, Vol.34 (S1), p.125-126

2009

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A new form of rhizo-mesomelic bone dysplasia

Pediatric radiology, 1995-06, Vol.25 (4), p.300-302

1995

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Radiographic abnormalities in Laron dwarfism

Pediatric radiology, 1994-08, Vol.24 (4), p.260-262

1994

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Micromelic dwarfism-humerus, femur, tibia type. Report of a case

Pediatric radiology, 1993-10, Vol.23 (6), p.446-449

1993

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X-linked dominant chondrodysplasia punctata (CDPX2): multisystemic impact of the defect in cholesterol biosynthesis

Prague medical report, 2007, Vol.108 (3), p.263-269

2007

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Severe limb abnormalities: Nievergelt or new syndrome?

American journal of medical genetics, 1997-05, Vol.70 (1), p.48-51

1997

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Parental consanguinity in two sibs with omodysplasia

American journal of medical genetics, 1994-02, Vol.49 (3), p.263-265

1994

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Prenatal diagnosis of skeletal dysplasia in first trimester of pregnancy X-linked dominant chondrodysplasia punctata

Ceská gynekologie, 2014-06, Vol.79 (3), p.193

2014

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Brachytelephalangic chondrodysplasia punctata with distinctive phenotype and normal karyotype

American journal of medical genetics, 1998-03, Vol.76 (3), p.213-216

1998

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Mesomelic dysplasia: Langer type

Australasian radiology, 1994-02, Vol.38 (1), p.58-60

1994

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Prenatal diagnosis and outcome of skeletal dysplasias

International journal of gynecology and obstetrics, 2000, Vol.70 (S1), p.A79-A79

2000

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Schimke immuno-osseous dysplasia: a case report

Radiologia medica, 1998-04, Vol.95 (4), p.369-371

1998

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FGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome

American journal of medical genetics, 1998-04, Vol.76 (4), p.362-364

1998

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Antley-Bixler syndrome or POR deficiency?

Časopis lékařů českých, 2008, Vol.147 (5), p.261-265

2008

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Comparison of prenatal ultrasound examination, post-mortem magnetic resonance imaging and autopsy (a case report--schizencephaly)

Ceská gynekologie, 2009-06, Vol.74 (3), p.225

2009

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SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri–Weill dyschondrosteosis

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report

Meningocerebral Angiodysplasia: Post-Mortem Magnetic Resonance Imaging and Autopsy: A Case Report

OP05.04: Non‐invasive diagnosis of RhD status and fetal gender from maternal plasma: our results from years 2008 to 2014

Foramina parietalia permagna: Report of nine cases in one family

GAPO syndrome (Radiographic clues to early diagnosis)

Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the Czech population

Lethal kyphomelic dysplasia

OP20.04: Detection of fetal major structural anomalies at the 11-14 ultrasound scan in an unselected population: Oral poster abstracts

OP20.04: Detection of fetal major structural anomalies at the 11–14 ultrasound scan in an unselected population

A new form of rhizo-mesomelic bone dysplasia

Radiographic abnormalities in Laron dwarfism

Micromelic dwarfism-humerus, femur, tibia type. Report of a case

X-linked dominant chondrodysplasia punctata (CDPX2): multisystemic impact of the defect in cholesterol biosynthesis

Severe limb abnormalities: Nievergelt or new syndrome?

Parental consanguinity in two sibs with omodysplasia

Prenatal diagnosis of skeletal dysplasia in first trimester of pregnancy X-linked dominant chondrodysplasia punctata

Brachytelephalangic chondrodysplasia punctata with distinctive phenotype and normal karyotype

Mesomelic dysplasia: Langer type

Prenatal diagnosis and outcome of skeletal dysplasias

Schimke immuno-osseous dysplasia: a case report

FGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome

Antley-Bixler syndrome or POR deficiency?

Comparison of prenatal ultrasound examination, post-mortem magnetic resonance imaging and autopsy (a case report--schizencephaly)

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