UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 282

Sortiert nach

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

Nature genetics, 1997-03, Vol.15 (3), p.266-268

1997

Link zum Volltext

Verfügbarkeit prüfen

Novel proximal 14q deletion: clinical and diffusion tensor imaging tractography findings in a patient with lissencephaly, agenesis of the corpus callosum, and septo-optic dysplasia

American journal of neuroradiology : AJNR, 2012-02, Vol.33 (2), p.E16-E18

2012

Link zum Volltext

Verfügbarkeit prüfen

Dental Abnormalities in Schimke Immuno-osseous Dysplasia

Journal of dental research, 2012-07, Vol.91 (7_suppl), p.S29-S37

2012

Link zum Volltext

Verfügbarkeit prüfen

Congenital microgastria and limb reduction defects

Pediatrics (Evanston), 1993-06, Vol.91 (6), p.1192

1993

Link zum Volltext

Verfügbarkeit prüfen

Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3

American journal of human genetics, 2003-04, Vol.72 (4), p.918-930

2003

Link zum Volltext

Verfügbarkeit prüfen

Overgrowth syndromes

Pediatric annals, 1990-02, Vol.19 (2), p.119, 122

Olney, A H

1990

Link zum Volltext

Verfügbarkeit prüfen

Velocardiofacial Syndrome (Shprintzen Syndrome, Chromosome 22q11 Deletion Syndrome)

Ear, nose, & throat journal, 1998-06, Vol.77 (6), p.460-461

1998

Link zum Volltext

Verfügbarkeit prüfen

Using charged device model testing to eliminate real-world ESD failures

Microelectronics and reliability, 1998-01, Vol.38 (1), p.129-143

Olney, Andrew H.

1998

Link zum Volltext

Verfügbarkeit prüfen

Hypothalamic dysfunction with polydactyly and hypoplastic nails

Seminars in pediatric neurology, 1999-09, Vol.6 (3), p.238-242

1999

Link zum Volltext

Verfügbarkeit prüfen

Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations

Genetics in medicine, 2008-04, Vol.10 (4), p.262-266

2008

Link zum Volltext

Verfügbarkeit prüfen

Stickler Syndrome

Ear, nose, & throat journal, 1997-10, Vol.76 (10), p.706-706

1997

Link zum Volltext

Verfügbarkeit prüfen

Report from the workshop on Pallister-Hall syndrome and related phenotypes

American journal of medical genetics, 1996-10, Vol.65 (1), p.76-81

1996

Link zum Volltext

Verfügbarkeit prüfen

Hypoplasia of the cerebellar vermis and corpus callosum in thrombocytopenia with absent radius syndrome on MRI studies

American journal of medical genetics, 1994-03, Vol.50 (1), p.46-50

1994

Link zum Volltext

Verfügbarkeit prüfen

Partial deletion of 14q and partial duplication of 14q in sibs: Testicular mosaicism for t(14q;14q) as a common mechanism

American journal of medical genetics, 1989-12, Vol.34 (4), p.528-534

1989

Link zum Volltext

Verfügbarkeit prüfen

Brain magnetic resonance imaging findings in the Opitz G/BBB syndrome: Extension of the spectrum of midline brain anomalies

American journal of medical genetics, 1993-07, Vol.46 (6), p.706-711

1993

Link zum Volltext

Verfügbarkeit prüfen

Wiedemann-Beckwith syndrome in apparently discordant monozygotic twins

American journal of medical genetics, 1988-03, Vol.29 (3), p.491-499

1988

Link zum Volltext

Verfügbarkeit prüfen

Safety and efficacy of eltrombopag for treatment of chronic immune thrombocytopenia: results of the long-term, open-label EXTEND study

Blood, 2013-01, Vol.121 (3), p.537-545

2013

Link zum Volltext

Verfügbarkeit prüfen

Mapping of the human complement factor I gene to 4q25

Genomics (San Diego, Calif.), 1989, Vol.4 (1), p.82-86

1989

Link zum Volltext

Verfügbarkeit prüfen

Informed consent for medical photographs

Genetics in medicine, 2000, Vol.2 (6), p.353-355

2000

Link zum Volltext

Verfügbarkeit prüfen

Carriers and patients with muscle–eye–brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts

Neuromuscular disorders : NMD, 2006-02, Vol.16 (2), p.132-136

2006

Link zum Volltext

Verfügbarkeit prüfen

Waardenburg Syndrome

Ear, nose, & throat journal, 1998-04, Vol.77 (4), p.257-258

1998

Link zum Volltext

Verfügbarkeit prüfen

Cryptic duplication and deletion of 9q34.3 → qter in a family with a t(9;22)(q34.3;p11.2)

American journal of medical genetics. Part A, 2005-09, Vol.138A (1), p.51-55

2005

Link zum Volltext

Verfügbarkeit prüfen

Branchio-oto-renal Syndrome (BOR Syndrome, Melnick-Fraser Syndrome)

Ear, nose, & throat journal, 1998-03, Vol.77 (3), p.172-172

1998

Link zum Volltext

Verfügbarkeit prüfen

Pallister-Hall Syndrome

Ear, nose, & throat journal, 1998-05, Vol.77 (5), p.370-370

1998

Link zum Volltext

Verfügbarkeit prüfen

Turner Syndrome

Ear, nose, & throat journal, 1998-10, Vol.77 (10), p.812-812

1998

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 282

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(233)
Mit Volltextzugriff
(253)

Publikationsform

2 weitere anzeigen...

Weniger anzeigen...

Sprache

Englisch
(281)
Japanisch
(31)
Deutsch
(1)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

Novel proximal 14q deletion: clinical and diffusion tensor imaging tractography findings in a patient with lissencephaly, agenesis of the corpus callosum, and septo-optic dysplasia

Dental Abnormalities in Schimke Immuno-osseous Dysplasia

Congenital microgastria and limb reduction defects

Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3

Overgrowth syndromes

Velocardiofacial Syndrome (Shprintzen Syndrome, Chromosome 22q11 Deletion Syndrome)

Using charged device model testing to eliminate real-world ESD failures

Hypothalamic dysfunction with polydactyly and hypoplastic nails

Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations

Stickler Syndrome

Report from the workshop on Pallister-Hall syndrome and related phenotypes

Hypoplasia of the cerebellar vermis and corpus callosum in thrombocytopenia with absent radius syndrome on MRI studies

Partial deletion of 14q and partial duplication of 14q in sibs: Testicular mosaicism for t(14q;14q) as a common mechanism

Brain magnetic resonance imaging findings in the Opitz G/BBB syndrome: Extension of the spectrum of midline brain anomalies

Wiedemann-Beckwith syndrome in apparently discordant monozygotic twins

Safety and efficacy of eltrombopag for treatment of chronic immune thrombocytopenia: results of the long-term, open-label EXTEND study

Mapping of the human complement factor I gene to 4q25

Informed consent for medical photographs

Carriers and patients with muscle–eye–brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts

Waardenburg Syndrome

Cryptic duplication and deletion of 9q34.3 → qter in a family with a t(9;22)(q34.3;p11.2)

Branchio-oto-renal Syndrome (BOR Syndrome, Melnick-Fraser Syndrome)

Pallister-Hall Syndrome

Turner Syndrome

Suchergebnisse filtern