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...

Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification

Journal of medical genetics, 2007-07, Vol.44 (7), p.424-428

2007

Volltextzugriff (PDF)

An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation

American journal of human genetics, 2007-01, Vol.80 (1), p.140-151

2007

Volltextzugriff (PDF)

Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening

Journal of medical genetics, 2007-08, Vol.44 (8), p.481-484

2007

Volltextzugriff (PDF)

Further genotype - phenotype correlations in neurofibromatosis 2

Clinical genetics, 2010-02, Vol.77 (2), p.163-170

2010

Volltextzugriff (PDF)

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

Journal of medical genetics, 2009-07, Vol.46 (7), p.431-437

2009

Volltextzugriff (PDF)

Bilateral vestibular schwannomas in older patients: NF2 or chance?

Journal of medical genetics, 2015-06, Vol.52 (6), p.422-424

2015

Volltextzugriff (PDF)

Management of the patient and family with neurofibromatosis 2: a consensus conference statement

British journal of neurosurgery, 2005-02, Vol.19 (1), p.5-12

2005

Volltextzugriff (PDF)

Mutation type and position varies between mosaic and inherited NF2 and correlates with disease severity

Clinical genetics, 2013-06, Vol.83 (6), p.594-595

2013

Volltextzugriff (PDF)

Birth incidence and prevalence of tumor-prone syndromes: Estimates from a UK family genetic register service

American journal of medical genetics. Part A, 2010-02, Vol.152A (2), p.327-332

2010

Volltextzugriff (PDF)

Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma?

Clinical genetics, 2007-04, Vol.71 (4), p.354-358

2007

Volltextzugriff (PDF)

Congenital abnormalities in Brazilian children associated with misoprostol misuse in first trimester of pregnancy

The Lancet (British edition), 1998-05, Vol.351 (9116), p.1624-1627

1998

Volltextzugriff (PDF)

A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity

Journal of medical genetics, 1992-12, Vol.29 (12), p.841-846

1992

Volltextzugriff (PDF)

Evaluation of genotype-phenotype correlations in neurofibromatosis type 1

Journal of medical genetics, 2003-10, Vol.40 (10), p.e109-109

2003

Volltextzugriff (PDF)

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

EBioMedicine, 2016-05, Vol.7 (C), p.212-220

2016

Volltextzugriff (PDF)

The clinical and diagnostic implications of mosaicism in the neurofibromatoses

Neurology, 2001-06, Vol.56 (11), p.1433-1443

2001

Volltextzugriff (PDF)

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity

Journal of medical genetics, 1989-11, Vol.26 (11), p.704-711

1989

Volltextzugriff (PDF)

Severe limb abnormalities after chorion villus sampling at 56-66 days' gestation

The Lancet (British edition), 1991-03, Vol.337 (8744), p.762-763

1991

Volltextzugriff (PDF)

Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study

Journal of neurology, neurosurgery and psychiatry, 1997-04, Vol.62 (4), p.361-366

1997

Volltextzugriff (PDF)

Von Recklinghausen neurofibromatosis: a clinical and population study in south-east Wales

Brain (London, England : 1878), 1988-12, Vol.111 (6), p.1355-1381

1988

Volltextzugriff (PDF)

Radiation-induced brachial plexopathy in women treated for carcinoma of the breast

Clinical rehabilitation, 2002-03, Vol.16 (2), p.160-165

2002

Volltextzugriff (PDF)

Analysis of limb reduction defects in babies exposed to chorionic villus sampling

The Lancet (British edition), 1994-04, Vol.343 (8905), p.1069-1071

1994

Volltextzugriff (PDF)

Focal amyotrophy in neurofibromatosis 2

Journal of neurology, neurosurgery and psychiatry, 2000-08, Vol.69 (2), p.257-261

2000

Volltextzugriff (PDF)

Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen

The Lancet (British edition), 1995-07, Vol.346 (8966), p.24-25

1995

Volltextzugriff (PDF)

Pigmentary anomalies in ataxia–telangiectasia: a clue to diagnosis and an example of twin spotting

British journal of dermatology (1951), 2001-02, Vol.144 (2), p.369-371

2001

Volltextzugriff (PDF)

A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling

Journal of medical genetics, 1992-12, Vol.29 (12), p.847-852

1992

Volltextzugriff (PDF)

1 – 25 von 622

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(539)
Mit Volltextzugriff
(549)

Publikationsform

1 weiteren anzeigen...

Weniger anzeigen...

Sprache

Englisch
(621)
Niederländisch
(1)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification

An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation

Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening

Further genotype - phenotype correlations in neurofibromatosis 2

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

Bilateral vestibular schwannomas in older patients: NF2 or chance?

Management of the patient and family with neurofibromatosis 2: a consensus conference statement

Mutation type and position varies between mosaic and inherited NF2 and correlates with disease severity

Birth incidence and prevalence of tumor-prone syndromes: Estimates from a UK family genetic register service

Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma?

Congenital abnormalities in Brazilian children associated with misoprostol misuse in first trimester of pregnancy

A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity

Evaluation of genotype-phenotype correlations in neurofibromatosis type 1

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

The clinical and diagnostic implications of mosaicism in the neurofibromatoses

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity

Severe limb abnormalities after chorion villus sampling at 56-66 days' gestation

Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study

Von Recklinghausen neurofibromatosis: a clinical and population study in south-east Wales

Radiation-induced brachial plexopathy in women treated for carcinoma of the breast

Analysis of limb reduction defects in babies exposed to chorionic villus sampling

Focal amyotrophy in neurofibromatosis 2

Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen

Pigmentary anomalies in ataxia–telangiectasia: a clue to diagnosis and an example of twin spotting

A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling

Suchergebnisse filtern