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Experiences from Exporting Major Proof Assistant Libraries

Journal of automated reasoning, 2021-12, Vol.65 (8), p.1265-1298

2021

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The Mizar Mathematical Library in OMDoc: Translation and Applications

Journal of automated reasoning, 2013-02, Vol.50 (2), p.191-202

2013

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The Mizar Mathematical Library in OMDoc: Translation and Applications: Formal Mathematics for Mathematicians

Journal of automated reasoning, 2013, Vol.50 (2), p.191-202

2013

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Special Issue on Computational Semantics

Journal of logic, language, and information, 2004, Vol.13 (2), p.115

2004

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Applying Semantic Techniques to Search and Analyze Bug Tracking Data

Journal of network and systems management, 2009-09, Vol.17 (3), p.285-308

2009

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Inference and Computational Semantics

Journal of logic, language, and information, 2004-01, Vol.13 (2), p.117-120

2004

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Integrating Computer Algebra into Proof Planning

Journal of automated reasoning, 1998-12, Vol.21 (3), p.327

1998

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Managing Structural Information by Higher-Order Colored Unification

Journal of automated reasoning, 2000-08, Vol.25 (2), p.123-164

2000

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Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

Brain (London, England : 1878), 2017-06, Vol.140 (6), p.1561-1578

2017

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Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients

Human mutation, 2009-05, Vol.30 (5), p.776-786

2009

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The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype

Journal of medical genetics, 2014-03, Vol.51 (3), p.165-169

2014

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Germline NF1 Mutational Spectra and Loss-of-Heterozygosity Analyses in Patients with Pheochromocytoma and Neurofibromatosis Type 1

The journal of clinical endocrinology and metabolism, 2007-07, Vol.92 (7), p.2784-2792

2007

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Expression of a truncated Sall1 transcriptional repressor is responsible for Townes–Brocks syndrome birth defects

Human molecular genetics, 2003-09, Vol.12 (17), p.2221-2227

2003

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Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay

Human mutation, 2007-08, Vol.28 (8), p.830-830

2007

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Spongiform encephalopathy in siblings with no evidence of protease-resistant prion protein or a mutation in the prion protein gene

Journal of neurology, 2013-07, Vol.260 (7), p.1871-1879

2013

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Frequency of progranulin mutations in a German cohort of 79 frontotemporal dementia patients

Journal of neurology, 2009-12, Vol.256 (12), p.2043-2051

2009

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Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations

Human mutation, 2006-09, Vol.27 (9), p.975-976

2006

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Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome

Human mutation, 2006-02, Vol.27 (2), p.211-212

2006

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The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a [beta] cell phenotype

Journal of medical genetics, 2014-03, Vol.51 (3), p.165

2014

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Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes

American journal of medical genetics. Part A, 2006-09, Vol.140A (17), p.1880-1886

2006

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Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome

JIMD Reports - Case and Research Reports, Volume 13, 2014, Vol.13, p.53-57

2014

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Detection of heterozygousSALL1 deletions by quantitative real time PCR proves the contribution of aSALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome

Human mutation, 2006-02, Vol.27 (2), p.211-212

2006

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Multigene deletions on chromosome 20q13.13-q13.2 includingSALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay

Human mutation, 2007-08, Vol.28 (8), p.830-830

2007

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Expanding the spectrum ofTBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations

Human mutation, 2006-09, Vol.27 (9), p.975-976

2006

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Experiences from Exporting Major Proof Assistant Libraries

The Mizar Mathematical Library in OMDoc: Translation and Applications

The Mizar Mathematical Library in OMDoc: Translation and Applications: Formal Mathematics for Mathematicians

Special Issue on Computational Semantics

Applying Semantic Techniques to Search and Analyze Bug Tracking Data

Inference and Computational Semantics

Integrating Computer Algebra into Proof Planning

Managing Structural Information by Higher-Order Colored Unification

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients

The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype

Germline NF1 Mutational Spectra and Loss-of-Heterozygosity Analyses in Patients with Pheochromocytoma and Neurofibromatosis Type 1

Expression of a truncated Sall1 transcriptional repressor is responsible for Townes–Brocks syndrome birth defects

Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay

Spongiform encephalopathy in siblings with no evidence of protease-resistant prion protein or a mutation in the prion protein gene

Frequency of progranulin mutations in a German cohort of 79 frontotemporal dementia patients

Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations

Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome

The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a [beta] cell phenotype

Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes

Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome

Detection of heterozygousSALL1 deletions by quantitative real time PCR proves the contribution of aSALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome

Multigene deletions on chromosome 20q13.13-q13.2 includingSALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay

Expanding the spectrum ofTBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations

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