UB Paderborn / Katalog / Suche / in CDI

Philosophical transactions of the Royal Society of London. Series A: Mathematical, physical, and engineering sciences, 2004-08, Vol.362 (1821), p.1605-1612

2004

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Bose-Einstein condensates and the numerical solution of the Gross-Pitaevskii equation

Computing in science & engineering, 2005-11, Vol.7 (6), p.48-57

2005

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IEEE_Xplore

Phase-Transition Regularities in Critical Constants, Fusion Temperatures and Enthalpies of Chemically Similar Chainlike Structures

Chemphyschem, 2005-09, Vol.6 (9), p.1741-1745

2005

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large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects

Human mutation, 2008-12, Vol.29 (12), p.1412-1424

2008

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Functional analysis of splicing mutations and of an exon 2 polymorphic variant ofSERPING1/C1NH

Human mutation, 2006-03, Vol.27 (3), p.295-296

2006

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Molecular genetics of C1 inhibitor

Immunobiology (1979), 1998-08, Vol.199 (2), p.358-365

Tosi, M

1998

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COOH-terminal Substitutions in the Serpin C1 Inhibitor That Cause Loop Overinsertion and Subsequent Multimerization (∗)

The Journal of biological chemistry, 1995-02, Vol.270 (6), p.2579-2587

1995

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Tumor-infiltrating lymphocytes in colorectal cancers with microsatellite instability are correlated with the number and spectrum of frameshift mutations

Modern pathology, 2009-09, Vol.22 (9), p.1186-1195

2009

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Pressure-driven structural transitions in molten salts

Atti della Accademia peloritana dei pericolanti. Classe I di scienze fis., mat. e naturali, 2011-01, Vol.89 (1), p.C1A8901001-1

2011

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A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

Human mutation, 2010-01, Vol.31 (1), p.E1110-E1125

2010

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Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes

Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes

Correction: Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

Prognostic value of KRAS genotype in metastatic colorectal cancer (MCRC) patients treated with intensive triplet chemotherapy plus bevacizumab (FIr-B/FOx) according to extension of metastatic disease

Modelo adiabático da atmosfera terrestre compatível com o aquecimento global e o efeito estufa

A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy

Electro-optical modeling of high power semiconductor laser based on an InGaAs/GaAs/InGaP heterostructure

Diversity of the clinical presentation of the MMR gene biallelic mutations

Detection of somatic quantitative genetic alterations by multiplex polymerase chain reaction for the prediction of outcome in diffuse large B-cell lymphomas

Kinetochore KMN network gene CASC5 mutated in primary microcephaly

Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

A particle–dynamics study of dissipation in colliding clouds of ultracold fermions

Bose-Einstein condensates and the numerical solution of the Gross-Pitaevskii equation

Phase-Transition Regularities in Critical Constants, Fusion Temperatures and Enthalpies of Chemically Similar Chainlike Structures

large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects

Functional analysis of splicing mutations and of an exon 2 polymorphic variant ofSERPING1/C1NH

Molecular genetics of C1 inhibitor

COOH-terminal Substitutions in the Serpin C1 Inhibitor That Cause Loop Overinsertion and Subsequent Multimerization (∗)

Tumor-infiltrating lymphocytes in colorectal cancers with microsatellite instability are correlated with the number and spectrum of frameshift mutations

Pressure-driven structural transitions in molten salts

A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

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