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...

Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype

Clinical genetics, 2013-04, Vol.83 (4), p.345-351

2013

Volltextzugriff (PDF)

Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22

Nature (London), 1987-09, Vol.329 (6136), p.246-248

1987

Volltextzugriff (PDF)

Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred

The New England journal of medicine, 1988-08, Vol.319 (5), p.278-283

1988

Volltextzugriff (PDF)

Unusual cardiac malformations in conjoined twins: thoracopagus twins with conjoined pentalogy of Cantrell and an omphalopagus twin with atretic ventricles

Pediatric cardiology, 2002-11, Vol.23 (6), p.631-638

2002

Volltextzugriff (PDF)

Peroxisomal bifunctional enzyme complex deficiency with associated retinal findings

Journal of pediatric ophthalmology and strabismus, 1995-03, Vol.32 (2), p.125-127

1995

Volltextzugriff (PDF)

Aberrant retropharyngeal internal carotid artery in a child with spondyloepimetaphyseal dysplasia and cleft palate

The Cleft palate-craniofacial journal, 1996-07, Vol.33 (4), p.337-339

1996

Volltextzugriff (PDF)

Myopathy in Marinesco-Sjogren syndrome

European neurology, 1987, Vol.26 (1), p.8-16

1987

Volltextzugriff (PDF)

Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22

American journal of human genetics, 1990-02, Vol.46 (2), p.323-328

1990

Volltextzugriff (PDF)

Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?

American journal of medical genetics, 1999-08, Vol.85 (5), p.438-446

1999

Volltextzugriff (PDF)

Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus: A unique multiple malformation syndrome

American journal of medical genetics, 1993-10, Vol.47 (5), p.640-643

1993

Volltextzugriff (PDF)

Early prenatal diagnosis: the first 100 cases of chorionic villus sampling at Ochsner Foundation Hospital

The Journal of the Louisiana State Medical Society, 1993-07, Vol.145 (7), p.313

1993

Volltextzugriff (PDF)

Meier‐Gorlin syndrome: Report of eight additional cases and review

American journal of medical genetics, 2001-08, Vol.102 (2), p.115-124

2001

Volltextzugriff (PDF)

Neurofibromatosis, skin hemangiomas, and arterial disease

Birth defects original article series, 1982, Vol.18 (3B), p.29

1982

Volltextzugriff (PDF)

Comparative studies of infants with mosaic and complete triploidy: an analysis of 55 cases

Birth defects original article series, 1982, Vol.18 (3B), p.251

1982

Volltextzugriff (PDF)

Brief clinical report: similarity of effects. Experimental hyperthermia as a teratogen and maternal febrile illness associated with oromandibular and limb defects

American journal of medical genetics, 1985, Vol.21 (3), p.575-580

1985

Volltextzugriff (PDF)

A genetic services microcomputer data base. Part II. Results and trends

The Alabama journal of medical sciences, 1987-10, Vol.24 (4), p.397

1987

Volltextzugriff (PDF)

A genetic services microcomputer data base. Part I. Design and implementation

The Alabama journal of medical sciences, 1987-07, Vol.24 (3), p.281

1987

Volltextzugriff (PDF)

Abnormal centromere-chromatid apposition (Acca) and Peters' anomaly

Ophthalmic genetics, 1985, Vol.6 (1-2), p.7-15

1985

Volltextzugriff (PDF)

Angiomas and von Recklinghausen neurofibromatosis

Neurofibromatosis, 1988, Vol.1 (3), p.137

1988

Volltextzugriff (PDF)

Brief clinical report: a sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome

American journal of medical genetics, 1981, Vol.10 (2), p.133-139

1981

Volltextzugriff (PDF)

Abnormal centromere-chromatid apposition (ACCA) and Peters' anomaly

Ophthalmic paediatrics and genetics, 1985-08, Vol.6 (1-2), p.247-255

1985

Volltextzugriff (PDF)

Similarity of effects-experimental hyperthermia as a teratogen and maternal febrile illness associated with oromandibular and limb defects

American journal of medical genetics, 1985-07, Vol.21 (3), p.575-580

1985

Volltextzugriff (PDF)

Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus : a unique multiple malformation syndrome. Commentary

American journal of medical genetics, 1993, Vol.47 (5), p.640-643

1993

Volltextzugriff (PDF)

Meier-Gorlin syndrome: Report of eight additional cases and review

American journal of medical genetics, 2001-08, Vol.102 (2), p.115-124

2001

Volltextzugriff (PDF)

History of the cerebrohepatorenal syndrome of Zellweger and other peroxisomal disorders

Southern medical journal (Birmingham, Ala.), 1988-03, Vol.81 (3), p.357-364

1988

Volltextzugriff (PDF)

1 – 25 von 28

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(13)
Mit Volltextzugriff
(16)

Publikationsform

Artikel
(28)

Sprache

Englisch
(28)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype

Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22

Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred

Unusual cardiac malformations in conjoined twins: thoracopagus twins with conjoined pentalogy of Cantrell and an omphalopagus twin with atretic ventricles

Peroxisomal bifunctional enzyme complex deficiency with associated retinal findings

Aberrant retropharyngeal internal carotid artery in a child with spondyloepimetaphyseal dysplasia and cleft palate

Myopathy in Marinesco-Sjogren syndrome

Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22

Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?

Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus: A unique multiple malformation syndrome

Early prenatal diagnosis: the first 100 cases of chorionic villus sampling at Ochsner Foundation Hospital

Meier‐Gorlin syndrome: Report of eight additional cases and review

Neurofibromatosis, skin hemangiomas, and arterial disease

Comparative studies of infants with mosaic and complete triploidy: an analysis of 55 cases

Brief clinical report: similarity of effects. Experimental hyperthermia as a teratogen and maternal febrile illness associated with oromandibular and limb defects

A genetic services microcomputer data base. Part II. Results and trends

A genetic services microcomputer data base. Part I. Design and implementation

Abnormal centromere-chromatid apposition (Acca) and Peters' anomaly

Angiomas and von Recklinghausen neurofibromatosis

Brief clinical report: a sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome

Abnormal centromere-chromatid apposition (ACCA) and Peters' anomaly

Similarity of effects-experimental hyperthermia as a teratogen and maternal febrile illness associated with oromandibular and limb defects

Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus : a unique multiple malformation syndrome. Commentary

Meier-Gorlin syndrome: Report of eight additional cases and review

History of the cerebrohepatorenal syndrome of Zellweger and other peroxisomal disorders

Suchergebnisse filtern