UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 103

Sortiert nach

Alagille syndrome: pathogenesis, diagnosis and management

European journal of human genetics : EJHG, 2012-03, Vol.20 (3), p.251-257

2012

Volltextzugriff (PDF)

Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

Clinical genetics, 2019-06, Vol.95 (6), p.693-703

2019

Volltextzugriff (PDF)

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

Human molecular genetics, 2006-05, Vol.15 (9), p.1413-1422

2006

Volltextzugriff (PDF)

Abnormal vertebral segmentation and the notch signaling pathway in man

Developmental dynamics, 2007-06, Vol.236 (6), p.1456-1474

2007

Volltextzugriff (PDF)

Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16–18, 2017, Dallas, Texas

American journal of medical genetics. Part A, 2018-01, Vol.176 (1), p.253-256

2018

Volltextzugriff (PDF)

Factors determining penetrance in familial atypical haemolytic uraemic syndrome

Journal of medical genetics, 2014-11, Vol.51 (11), p.756-764

2014

Volltextzugriff (PDF)

Digesting GWAS

Cellular and molecular gastroenterology and hepatology, 2016-09, Vol.2 (5), p.542-543

Turnpenny, Peter D., FRCP, FRCPCH, FRCPath

2016

Volltextzugriff (PDF)

Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in Humans

Annals of the New York Academy of Sciences, 2009-01, Vol.1151 (1), p.38-67

2009

Volltextzugriff (PDF)

Mutations in the MESP2 Gene Cause Spondylothoracic Dysostosis/Jarcho-Levin Syndrome

American journal of human genetics, 2008-06, Vol.82 (6), p.1334-1341

2008

Volltextzugriff (PDF)

Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia

Brain sciences, 2021-05, Vol.11 (5), p.614

2021

Volltextzugriff (PDF)

Quantifying the contribution of recessive coding variation to developmental disorders

Science (American Association for the Advancement of Science), 2018-12, Vol.362 (6419), p.1161-1164

2018

Volltextzugriff (PDF)

De novo gain‐of‐function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy

Annals of neurology, 2018-06, Vol.83 (6), p.1198-1204

2018

Volltextzugriff (PDF)

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability

Journal of medical genetics, 2014-12, Vol.51 (12), p.806-813

2014

Volltextzugriff (PDF)

Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics

European journal of human genetics : EJHG, 2019-02, Vol.27 (2), p.169-182

2019

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)

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2

Journal of the American Society of Nephrology, 2017-08, Vol.28 (8), p.2529-2539

2017

Volltextzugriff (PDF)

Defective somitogenesis and abnormal vertebral segmentation in man

Advances in experimental medicine and biology, 2008, Vol.638, p.164

Turnpenny, Peter D

2008

Volltextzugriff (PDF)

Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae

American journal of medical genetics. Part A, 2010-06, Vol.152A (6), p.1357-1371

2010

Volltextzugriff (PDF)

Ectrodactyly‐ectodermal dysplasia‐clefting syndrome presenting with bilateral choanal atresia and rectal stenosis

American journal of medical genetics. Part A, 2020-08, Vol.182 (8), p.1939-1943

2020

Volltextzugriff (PDF)

Recontacting in clinical practice: an investigation of the views of healthcare professionals and clinical scientists in the United Kingdom

European journal of human genetics : EJHG, 2017-02, Vol.25 (3), p.275-279

2017

Volltextzugriff (PDF)

Recontact in clinical practice: a survey of clinical genetics services in the United Kingdom

Genetics in medicine, 2016-09, Vol.18 (9), p.876-881

2016

Volltextzugriff (PDF)

SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission

Brain (London, England : 1878), 2023-11, Vol.146 (11), p.4547-4561

2023

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)

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

Nature genetics, 2011-06, Vol.43 (6), p.527-529

2011

Volltextzugriff (PDF)

1 – 25 von 103

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(95)
Mit Volltextzugriff
(88)

Publikationsform

Sprache

Englisch
(102)
Japanisch
(17)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Alagille syndrome: pathogenesis, diagnosis and management

Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

Abnormal vertebral segmentation and the notch signaling pathway in man

Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16–18, 2017, Dallas, Texas

Factors determining penetrance in familial atypical haemolytic uraemic syndrome

Digesting GWAS

Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in Humans

Mutations in the MESP2 Gene Cause Spondylothoracic Dysostosis/Jarcho-Levin Syndrome

Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia

Quantifying the contribution of recessive coding variation to developmental disorders

De novo gain‐of‐function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability

The Phenotypic Continuum of ATP1A3 -Related Disorders

Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics

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

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2

Defective somitogenesis and abnormal vertebral segmentation in man

Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae

Ectrodactyly‐ectodermal dysplasia‐clefting syndrome presenting with bilateral choanal atresia and rectal stenosis

Recontacting in clinical practice: an investigation of the views of healthcare professionals and clinical scientists in the United Kingdom

Recontact in clinical practice: a survey of clinical genetics services in the United Kingdom

SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission

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

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

Suchergebnisse filtern