UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 44

Sortiert nach

Isolated and unilateral facial angiofibromas revealing a type 1 segmental postzygotic mosaicism of tuberous sclerosis complex with c.4949_4982del TSC2 mutation

British journal of dermatology (1951), 2018-01, Vol.178 (1), p.e53-e54

2018

Link zum Volltext

Verfügbarkeit prüfen

Dermatological and genetic data in tuberous sclerosis: A prospective single-center study of 38 patients

Annales de dermatologie et de vénéréologie, 2022-12, Vol.149 (4), p.241-244

2022

Link zum Volltext

Verfügbarkeit prüfen

Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT

Neurology, 2011-04, Vol.76 (17), p.1524

2011

Link zum Volltext

Verfügbarkeit prüfen

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy

Journal of cystic fibrosis, 2023-05, Vol.22 (3), p.515-524

2023

Link zum Volltext

Verfügbarkeit prüfen

Cognitive changes in asymptomatic carriers of the Huntington disease mutation gene

European journal of neurology, 2007-12, Vol.14 (12), p.1344-1350

2007

Link zum Volltext

Verfügbarkeit prüfen

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

Journal of medical genetics, 2004-09, Vol.41 (9), p.e110-e110

2004

Link zum Volltext

Verfügbarkeit prüfen

Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis

Diabetes & metabolism, 2008-12, Vol.34 (6), p.620-626

2008

Link zum Volltext

Verfügbarkeit prüfen

Severe episodes of extra cellular dehydration: an atypical adult presentation of cystic fibrosis

Clinical nephrology, 2008-04, Vol.69 (4), p.302

2008

Link zum Volltext

Verfügbarkeit prüfen

Hyperechogenic fetal bowel: A large French collaborative study of 682 cases

American journal of medical genetics, 2003-09, Vol.121A (3), p.209-213

2003

Link zum Volltext

Verfügbarkeit prüfen

Prevalence of the tuberous sclerosis complex at patients taken care for a renal angiomyolipoma

Progrès en urologie (Paris), 2020-09, Vol.30 (10), p.500-506

2020

Link zum Volltext

Verfügbarkeit prüfen

A simplified method for determination of specific DNA or RNA copy number using quantitative PCR and an automatic DNA sequencer

BioTechniques, 1992-07, Vol.13 (1), p.106

1992

Link zum Volltext

Verfügbarkeit prüfen

WS15.1 CysMA , a new tool for the interpretation of rare CFTR missense variants

Journal of cystic fibrosis, 2017-06, Vol.16, p.S27-S27

2017

Link zum Volltext

Verfügbarkeit prüfen

Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: Results of a French molecular collaborative study based on 641 prospective cases

American journal of medical genetics, 2002-06, Vol.110 (2), p.109-115

2002

Link zum Volltext

Verfügbarkeit prüfen

4 Valuable collaboration between a molecular CFTR database and a national CF registry: the French experience

Journal of cystic fibrosis, 2016-06, Vol.15, p.S52-S52

2016

Link zum Volltext

Verfügbarkeit prüfen

Isolated and unilateral facial angiofibromas revealing a type 1 segmental postzygotic mosaicism of tuberous sclerosis complex with c.4949_4982del TSC 2 mutation

British journal of dermatology (1951), 2018-01, Vol.178 (1)

2018

Link zum Volltext

Verfügbarkeit prüfen

WS8.5 Help for the interpretation of unclassified variants: example of the UMD-CFTR-France Locus Specific Database

Journal of cystic fibrosis, 2012-06, Vol.11, p.S17-S17

2012

Link zum Volltext

Verfügbarkeit prüfen

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

Human molecular genetics, 2014-05, Vol.23 (9), p.2279-2289

2014

Link zum Volltext

Verfügbarkeit prüfen

Quantitative determination of the hybrid Bcr‐Abl RNA in patients with chronic myelogenous leukaemia under interferon therapy

British journal of haematology, 1992-12, Vol.82 (4), p.701-707

1992

Link zum Volltext

Verfügbarkeit prüfen

Microchimerism from a dizygotic twin in juvenile ulcerative lichen planus

The Lancet (British edition), 2002-05, Vol.359 (9320), p.1861-1862

2002

Link zum Volltext

Verfügbarkeit prüfen

Bilateral hand amyotrophy with PMP-22 gene deletion

European journal of neurology, 2007-01, Vol.14 (1), p.115-116

2007

Link zum Volltext

Verfügbarkeit prüfen

UMD- CFTR -France: a model of national database for collection and analysis of extensive molecular data in CF and CFTR -related diseases ( CFTR -RD)

Journal of cystic fibrosis, 2010, Vol.9, p.S114-S114

2010

Link zum Volltext

Verfügbarkeit prüfen

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy

Journal of cystic fibrosis, 2023-05, Vol.22 (3), p.515-524

2023

Link zum Volltext

Verfügbarkeit prüfen

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

Journal of medical genetics, 2009-11, Vol.46 (11), p.752-758

2009

Link zum Volltext

Verfügbarkeit prüfen

P017 Update of CFTR-France: toward a more relevant dataset for predicting the impact of rare CFTR variants

Journal of cystic fibrosis, 2019-06, Vol.18, p.S61-S62

2019

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 44

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(39)
Mit Volltextzugriff
(35)

Publikationsform

Artikel
(42)
Berichte
(2)

Sprache

Erscheinungsjahr

n.n

Thema

Life Sciences & Biomedicine
(26)
Science & Technology
(26)
Humans
(21)
Male
(15)
Biological And Medical Sciences
(13)
Medical Sciences
(12)
Female
(11)
Genetics & Heredity
(8)
Life Sciences
(8)
Mutation
(8)
Middle Aged
(7)
Neurosciences & Neurology
(7)
Cystic Fibrosis Transmembrane Conductance Regulator - Genetics
(6)
Neurosciences
(6)
Adult
(5)
Animals
(5)
Clinical Neurology
(5)
Cystic Fibrosis - Genetics
(5)
Mice
(5)
Mutation - Genetics
(5)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Isolated and unilateral facial angiofibromas revealing a type 1 segmental postzygotic mosaicism of tuberous sclerosis complex with c.4949_4982del TSC2 mutation

Dermatological and genetic data in tuberous sclerosis: A prospective single-center study of 38 patients

Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy

Cognitive changes in asymptomatic carriers of the Huntington disease mutation gene

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis

Severe episodes of extra cellular dehydration: an atypical adult presentation of cystic fibrosis

Hyperechogenic fetal bowel: A large French collaborative study of 682 cases

Prevalence of the tuberous sclerosis complex at patients taken care for a renal angiomyolipoma

A simplified method for determination of specific DNA or RNA copy number using quantitative PCR and an automatic DNA sequencer

WS15.1 CysMA , a new tool for the interpretation of rare CFTR missense variants

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: Results of a French molecular collaborative study based on 641 prospective cases

4 Valuable collaboration between a molecular CFTR database and a national CF registry: the French experience

Isolated and unilateral facial angiofibromas revealing a type 1 segmental postzygotic mosaicism of tuberous sclerosis complex with c.4949_4982del TSC 2 mutation

WS8.5 Help for the interpretation of unclassified variants: example of the UMD-CFTR-France Locus Specific Database

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

Quantitative determination of the hybrid Bcr‐Abl RNA in patients with chronic myelogenous leukaemia under interferon therapy

Microchimerism from a dizygotic twin in juvenile ulcerative lichen planus

Bilateral hand amyotrophy with PMP-22 gene deletion

UMD- CFTR -France: a model of national database for collection and analysis of extensive molecular data in CF and CFTR -related diseases ( CFTR -RD)

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

P017 Update of CFTR-France: toward a more relevant dataset for predicting the impact of rare CFTR variants

Suchergebnisse filtern