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MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

Nature communications, 2016-07, Vol.7 (1), p.11920-11920, Article 11920

2016

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Ctp1 and the MRN-complex are required for endonucleolytic Rec12 removal with release of a single class of oligonucleotides in fission yeast

PLoS genetics, 2009-11, Vol.5 (11), p.e1000722-e1000722

2009

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Implementation and management outcomes of pharmacogenetic CYP2C19 testing for clopidogrel therapy in clinical practice

European journal of clinical pharmacology, 2021-05, Vol.77 (5), p.709-716

2021

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The Application of Next-Generation Sequencing for Mutation Detection in Autosomal-Dominant Hereditary Hearing Impairment

Otology & neurotology, 2017-07, Vol.38 (6), p.900-903

2017

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Functional interactions among members of the meiotic initiation complex in fission yeast

Current genetics, 2010-06, Vol.56 (3), p.237-249

2010

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Glucose-regulated interaction of a regulatory subunit of protein phosphatase 1 with the Snf1 protein kinase in Saccharomyces cerevisiae

Proceedings of the National Academy of Sciences - PNAS, 1998-05, Vol.95 (11), p.6245-6250

1998

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New insights into the performance of human whole-exome capture platforms

Nucleic acids research, 2015-06, Vol.43 (11), p.e76-e76

2015

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Mating-Type-Related Bias of Gene Conversion in Schizosaccharomyces pombe

Genetics (Austin), 2008-12, Vol.180 (4), p.1859-1868

2008

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Clinical Relevance of a 16-Gene Pharmacogenetic Panel Test for Medication Management in a Cohort of 135 Patients

Journal of clinical medicine, 2021-07, Vol.10 (15), p.3200

2021

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Ctp1 and the MRN-Complex Are Required for Endonucleolytic Rec12 Removal with Release of a Single Class of Oligonucleotides in Fission Yeast: e1000722

PLoS genetics, 2009-11, Vol.5 (11)

2009

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Detection of germline rearrangements in patients with α- and β-thalassemia using high resolution array CGH

Blood cells, molecules, & diseases, 2013-06, Vol.51 (1), p.39-47

2013

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Sites of strong Rec12/Spo11 binding in the fission yeast genome are associated with meiotic recombination and with centromeres

Chromosoma, 2008-10, Vol.117 (5), p.431-444

2008

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Cohesin and Recombination Proteins Influence the G1-to-S Transition in Azygotic Meiosis in Schizosaccharomyces pombe

Genetics (Austin), 2008-10, Vol.180 (2), p.727-740

2008

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Cohesin and Recombination Proteins Influence the G^sub 1^-to-S Transition in Azygotic Meiosis in Schizosaccharomyces pombe

Genetics (Austin), 2008-10, Vol.180 (2), p.727

2008

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The meiotic recombination hot spot ura4A in Schizosaccharomyces pombe

Genetics (Austin), 2005-02, Vol.169 (2), p.551-561

2005

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Sip5 interacts with both the Reg1/Glc7 protein phosphatase and the Snf1 protein kinase of Saccharomyces cerevisiae

Genetics (Austin), 2000, Vol.154 (1), p.99-107

2000

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Schizosaccharomyces pombe rds1, an adenine-repressible gene regulated by glucose, ammonium, phosphate, carbon dioxide and temperature

Molecular & general genetics, 1995-08, Vol.248 (4), p.439-445

1995

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MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

Ctp1 and the MRN-complex are required for endonucleolytic Rec12 removal with release of a single class of oligonucleotides in fission yeast

Implementation and management outcomes of pharmacogenetic CYP2C19 testing for clopidogrel therapy in clinical practice

The Application of Next-Generation Sequencing for Mutation Detection in Autosomal-Dominant Hereditary Hearing Impairment

Functional interactions among members of the meiotic initiation complex in fission yeast

Glucose-regulated interaction of a regulatory subunit of protein phosphatase 1 with the Snf1 protein kinase in Saccharomyces cerevisiae

New insights into the performance of human whole-exome capture platforms

An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice

Mating-Type-Related Bias of Gene Conversion in Schizosaccharomyces pombe

Clinical Relevance of a 16-Gene Pharmacogenetic Panel Test for Medication Management in a Cohort of 135 Patients

Ctp1 and the MRN-Complex Are Required for Endonucleolytic Rec12 Removal with Release of a Single Class of Oligonucleotides in Fission Yeast: e1000722

Detection of germline rearrangements in patients with α- and β-thalassemia using high resolution array CGH

Sites of strong Rec12/Spo11 binding in the fission yeast genome are associated with meiotic recombination and with centromeres

Cohesin and Recombination Proteins Influence the G1-to-S Transition in Azygotic Meiosis in Schizosaccharomyces pombe

Cohesin and Recombination Proteins Influence the G^sub 1^-to-S Transition in Azygotic Meiosis in Schizosaccharomyces pombe

The meiotic recombination hot spot ura4A in Schizosaccharomyces pombe

Sip5 interacts with both the Reg1/Glc7 protein phosphatase and the Snf1 protein kinase of Saccharomyces cerevisiae

First X-linked form of osteogenesis imperfecta, caused by mutations in MBTPS2, demonstrates a fundamental role for regulated intramembrane proteolysis in normal bone formation

Schizosaccharomyces pombe rds1, an adenine-repressible gene regulated by glucose, ammonium, phosphate, carbon dioxide and temperature

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