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A Variable Dinucleotide Repeat in the CFTR Gene Contributes to Phenotype Diversity by Forming RNA Secondary Structures That Alter Splicing

Proceedings of the National Academy of Sciences - PNAS, 2004-03, Vol.101 (10), p.3504-3509

2004

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Variant Cystic Fibrosis Phenotypes in the Absence of CFTR Mutations

The New England journal of medicine, 2002-08, Vol.347 (6), p.401-407

2002

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Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome

Human molecular genetics, 2005-11, Vol.14 (22), p.3493-3498

2005

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Phenotypic and genetic characterization of patients with features of “nonclassic” forms of cystic fibrosis

The Journal of pediatrics, 2005-05, Vol.146 (5), p.675-680

2005

Volltextzugriff (PDF)

Patients with Mutations in Gsα Have Reduced Activation of a Downstream Target in Epithelial Tissues due to Haploinsufficiency

The journal of clinical endocrinology and metabolism, 2007-10, Vol.92 (10), p.3941-3948

2007

Volltextzugriff (PDF)

Phylogeographic Structure in the Bogus Yucca Moth Prodoxus quinquepunctellus (Prodoxidae): Comparisons with Coexisting Pollinator Yucca Moths

Molecular phylogenetics and evolution, 2001-10, Vol.21 (1), p.117-127

2001

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Recurrent and destructive nasal polyposis in 2 siblings: A possible case of Woakes’ Syndrome

Otolaryngology-head and neck surgery, 2004-12, Vol.131 (6), p.1009-1011

2004

Volltextzugriff (PDF)

Variant Cystic Fibrosis Phenotypes in the Absence of CFTR Mutations

The New England journal of medicine, 2002-12, Vol.347 (23), p.1892-1893

Couper, Richard T L

2002

Volltextzugriff (PDF)

Patients with mutations in Gsalpha have reduced activation of a downstream target in epithelial tissues due to haploinsufficiency

The journal of clinical endocrinology and metabolism, 2007-10, Vol.92 (10), p.3941-3948

2007

Volltextzugriff (PDF)

The Pollination Biology of Manfreda virginica (Agavaceae): Relative Contribution of Diurnal and Nocturnal Visitors

Oikos, 1999-11, Vol.87 (2), p.373-381

1999

Volltextzugriff (PDF)

Mutations in the beta-subunit of the epithelial Na super(+) channel in patients with a cystic fibrosis-like syndrome

Human molecular genetics, 2005-11, Vol.14 (22), p.3493-3498

2005

Volltextzugriff (PDF)

Paranoia and belief updating during the COVID-19 crisis

Nature human behaviour, 2021-09, Vol.5 (9), p.1190

2021

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Geprüft (Peer-Review)
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Science & Technology
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Life Sciences & Biomedicine
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Humans
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Cystic Fibrosis - Genetics
(7)
Male
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Biological And Medical Sciences
(6)
Cystic Fibrosis Transmembrane Conductance Regulator - Genetics
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Phenotype
(6)
Adult
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Female
(5)
Medical Sciences
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Mutation
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Adolescent
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Child
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Fundamental And Applied Biological Sciences. Psychology
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Genotype
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A Variable Dinucleotide Repeat in the CFTR Gene Contributes to Phenotype Diversity by Forming RNA Secondary Structures That Alter Splicing

Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

Variant Cystic Fibrosis Phenotypes in the Absence of CFTR Mutations

Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome

Phenotypic and genetic characterization of patients with features of “nonclassic” forms of cystic fibrosis

Patients with Mutations in Gsα Have Reduced Activation of a Downstream Target in Epithelial Tissues due to Haploinsufficiency

Phylogeographic Structure in the Bogus Yucca Moth Prodoxus quinquepunctellus (Prodoxidae): Comparisons with Coexisting Pollinator Yucca Moths

Recurrent and destructive nasal polyposis in 2 siblings: A possible case of Woakes’ Syndrome

Variant Cystic Fibrosis Phenotypes in the Absence of CFTR Mutations

Patients with mutations in Gsalpha have reduced activation of a downstream target in epithelial tissues due to haploinsufficiency

The Pollination Biology of Manfreda virginica (Agavaceae): Relative Contribution of Diurnal and Nocturnal Visitors

Mutations in the beta-subunit of the epithelial Na super(+) channel in patients with a cystic fibrosis-like syndrome

Paranoia and belief updating during the COVID-19 crisis

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