UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

Nature genetics, 2001-01, Vol.27 (1), p.17-18

2001

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Antley-Bixler syndrome or POR deficiency?

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

2008

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

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

2009

Volltextzugriff (PDF)

Case reports of patients with a marker chromosome

Časopis lékařů českých, 2004, Vol.143 (10), p.708

2004

Volltextzugriff (PDF)

Cooperation between genetic counseling centers, cytogenetic laboratories and in vitro fertilization centers in the treatment of reproductive disorders

Časopis lékařů českých, 2000-04, Vol.139 (8), p.246

2000

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

GAPO syndrome (Radiographic clues to early diagnosis)

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

1997

Volltextzugriff (PDF)

Is it always possible to determine a diagnosis? Prenatal ultrasonography, post mortem magnetic resonance, autopsy

Neuro-endocrinology letters, 2010, Vol.31 (2), p.178-180

2010

Volltextzugriff (PDF)

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

Genetic testing and molecular biomarkers, 2011-09, Vol.15 (9), p.607-611

2011

Volltextzugriff (PDF)

Lethal kyphomelic dysplasia

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

1996

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

A new form of rhizo-mesomelic bone dysplasia

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

1995

Volltextzugriff (PDF)

Radiographic abnormalities in Laron dwarfism

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

1994

Volltextzugriff (PDF)

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

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

1993

Volltextzugriff (PDF)

Cleft lip and palate--prenatal diagnosis and counseling

Ceská gynekologie, 1998-10, Vol.63 (5), p.382

1998

Volltextzugriff (PDF)

Mucolipidosis II (I cell disease). First case report in the Czech Republic and prenatal diagnosis in a family

Časopis lékařů českých, 1997-11, Vol.136 (22), p.702

1997

Volltextzugriff (PDF)

Parental consanguinity in two sibs with omodysplasia

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

1994

Volltextzugriff (PDF)

1 – 25 von 70

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(62)
Mit Volltextzugriff
(52)

Publikationsform

Artikel
(69)
Berichte
(1)

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

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

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

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

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

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

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

Antley-Bixler syndrome or POR deficiency?

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

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

Case reports of patients with a marker chromosome

Cooperation between genetic counseling centers, cytogenetic laboratories and in vitro fertilization centers in the treatment of reproductive disorders

Foramina parietalia permagna: Report of nine cases in one family

GAPO syndrome (Radiographic clues to early diagnosis)

Is it always possible to determine a diagnosis? Prenatal ultrasonography, post mortem magnetic resonance, autopsy

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

Cleft lip and palate--prenatal diagnosis and counseling

Mucolipidosis II (I cell disease). First case report in the Czech Republic and prenatal diagnosis in a family

Parental consanguinity in two sibs with omodysplasia

Suchergebnisse filtern