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...

Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis

American journal of human genetics, 2012-04, Vol.90 (4), p.746-751

2012

Volltextzugriff (PDF)

Sleep‐disordered breathing and its management in children with rare skeletal dysplasias

American journal of medical genetics. Part A, 2021-07, Vol.185 (7), p.2108-2118

2021

Volltextzugriff (PDF)

Knock‐In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP‐Dependent Protein Kinase A Activation: A Model of Type 1 Acrodysostosis

Journal of bone and mineral research, 2017-02, Vol.32 (2), p.333-346

2017

Volltextzugriff (PDF)

Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands

American journal of medical genetics. Part C, Seminars in medical genetics, 2009-11, Vol.151C (4), p.341-351

2009

Volltextzugriff (PDF)

Neonatal umbilical cord blood transplantation halts skeletal disease progression in the murine model of MPS-I

Scientific reports, 2017-08, Vol.7 (1), p.9473-13, Article 9473

2017

Volltextzugriff (PDF)

Multiple cervical hemivertebra resection and staged thoracic pedicle subtraction osteotomy in the treatment of complicated congenital scoliosis

European spine journal, 2016-05, Vol.25 (Suppl 1), p.188-193

2016

Volltextzugriff (PDF)

Spondylocostal Dysostosis Associated with Split Spinal Cord and Other Malformations

Pediatric neurosurgery, 2019-11, Vol.54 (6), p.367-374

2019

Volltextzugriff (PDF)

Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder

European journal of medical genetics, 2019-03, Vol.62 (3), p.167-171

2019

Volltextzugriff (PDF)

Acrodysostosis

Hormone and metabolic research, 2012-09, Vol.44 (10), p.749-758

2012

Volltextzugriff (PDF)

Two cases of Legg–Perthes and intellectual disability in Tricho–Rhino–Phalangeal syndrome type 1 associated with novel TRPS1 mutations

American journal of medical genetics. Part A, 2017-06, Vol.173 (6), p.1663-1667

2017

Volltextzugriff (PDF)

Congenital Spondylolytic Spondylolisthesis of C2 Vertebra Associated With Atlanto-Axial Dislocation, Chiari Type I Malformation, and Anomalous Vertebral Artery: Case Report With Review Literature

World neurosurgery, 2016-11, Vol.95, p.621.e1-621.e5

2016

Volltextzugriff (PDF)

Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome

American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.3161-3165

2013

Volltextzugriff (PDF)

Mutated MESP2 Causes Spondylocostal Dysostosis in Humans

American journal of human genetics, 2004-06, Vol.74 (6), p.1249-1254

2004

Volltextzugriff (PDF)

Mutations in the human Delta homologue, DLL3 , cause axial skeletal defects in spondylocostal dysostosis

Nature genetics, 2000-04, Vol.24 (4), p.438-441

2000

Volltextzugriff (PDF)

Cervical subluxation associated with posterior cervical hemivertebra

Child's nervous system, 2016-02, Vol.32 (2), p.387-390

2016

Volltextzugriff (PDF)

Attenuated form of type II mucopolysaccharidoses (Hunter syndrome): pitfalls and potential clues in diagnosis

BMJ case reports, 2018-02, Vol.2018, p.bcr-2018-224392

2018

Volltextzugriff (PDF)

Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome)

Pediatric radiology, 2011-03, Vol.41 (3), p.384-388

2011

Volltextzugriff (PDF)

Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis

Journal of medical genetics, 2003-05, Vol.40 (5), p.333-339

2003

Volltextzugriff (PDF)

Fetal skeletal computed tomography: When? How? Why?

Diagnostic and interventional imaging, 2014-11, Vol.95 (11), p.1045-1053

2014

Volltextzugriff (PDF)

Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene

Indian journal of medical research (New Delhi, India : 1994), 2014-07, Vol.140 (1), p.55-59

2014

Volltextzugriff (PDF)

Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG

American journal of medical genetics. Part A, 2010-06, Vol.152A (6), p.1378-1382

2010

Volltextzugriff (PDF)

Expanding the phenotype of spondylospinal thoracic dysostosis (the Turkel-Chen-Johnson syndrome)

Clinical dysmorphology, 2015-01, Vol.24 (1), p.1-6

2015

Volltextzugriff (PDF)

Radial Overgrowth After Radial Shortening Osteotomies for Skeletally Immature Patients With Kienböck's Disease

The Journal of hand surgery (American ed.), 2009-09, Vol.34 (7), p.1242-1247

2009

Volltextzugriff (PDF)

Spondylocostal dysostosis: Thirteen new cases treated by conservative and surgical means

Spine (Philadelphia, Pa. 1976), 2004-07, Vol.29 (13), p.1447-1451

2004

Volltextzugriff (PDF)

1 – 25 von 189

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(140)
Mit Volltextzugriff
(109)

Publikationsform

Sprache

4 weitere anzeigen...

Weniger anzeigen...

Erscheinungsjahr

n.n

Thema

Humans
(184)
Radiography
(141)
Science & Technology
(124)
Life Sciences & Biomedicine
(123)
Male
(117)
Female
(116)
Dysostoses - Diagnostic Imaging
(112)
Child
(58)
Adult
(55)
Biological And Medical Sciences
(55)
Medical Sciences
(55)
Dysostoses - Genetics
(49)
Genetics & Heredity
(47)
Child, Preschool
(38)
Diseases Of The Osteoarticular System
(37)
Adolescent
(36)
Infant
(36)
Infant, Newborn
(32)
Malformations And Congenital And Or Hereditary Diseases Involving Bones. Joint Deformations
(32)
Syndrome
(31)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis

Sleep‐disordered breathing and its management in children with rare skeletal dysplasias

Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis

Knock‐In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP‐Dependent Protein Kinase A Activation: A Model of Type 1 Acrodysostosis

Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands

Neonatal umbilical cord blood transplantation halts skeletal disease progression in the murine model of MPS-I

Multiple cervical hemivertebra resection and staged thoracic pedicle subtraction osteotomy in the treatment of complicated congenital scoliosis

Spondylocostal Dysostosis Associated with Split Spinal Cord and Other Malformations

Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder

Acrodysostosis

Two cases of Legg–Perthes and intellectual disability in Tricho–Rhino–Phalangeal syndrome type 1 associated with novel TRPS1 mutations

Congenital Spondylolytic Spondylolisthesis of C2 Vertebra Associated With Atlanto-Axial Dislocation, Chiari Type I Malformation, and Anomalous Vertebral Artery: Case Report With Review Literature

Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome

Mutated MESP2 Causes Spondylocostal Dysostosis in Humans

Mutations in the human Delta homologue, DLL3 , cause axial skeletal defects in spondylocostal dysostosis

Cervical subluxation associated with posterior cervical hemivertebra

Attenuated form of type II mucopolysaccharidoses (Hunter syndrome): pitfalls and potential clues in diagnosis

Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome)

Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis

Fetal skeletal computed tomography: When? How? Why?

Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene

Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG

Expanding the phenotype of spondylospinal thoracic dysostosis (the Turkel-Chen-Johnson syndrome)

Radial Overgrowth After Radial Shortening Osteotomies for Skeletally Immature Patients With Kienböck's Disease

Spondylocostal dysostosis: Thirteen new cases treated by conservative and surgical means

Suchergebnisse filtern