Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders. - Wikidata - wikimedia - TriplyDB

Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.

Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.

http://www.wikidata.org/entity/Q33608581

about

Animal Models of Cystic Fibrosis Pathology: Phenotypic Parallels and Divergences CFTR Modulators: Shedding Light on Precision Medicine for Cystic Fibrosis The CFTR Met 470 allele is associated with lower birth rates in fertile men from a population isolate.Long-term evaluation of genetic counseling following false-positive newborn screen for cystic fibrosis.Rescue of the mutant CFTR chloride channel by pharmacological correctors and low temperature analyzed by gene expression profiling.Impact of gene patents and licensing practices on access to genetic testing for cystic fibrosis.The role of Pseudomonas lipopolysaccharide in cystic fibrosis airway infection Characterization of whole genome amplified (WGA) DNA for use in genotyping assay development.A tailored approach to family-centered genetic counseling for cystic fibrosis newborn screening: the Wisconsin model.A probabilistic model to predict clinical phenotypic traits from genome sequencing Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants.Combination antimicrobial susceptibility testing of multidrug-resistant Stenotrophomonas maltophilia from cystic fibrosis patients.Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period Combination therapy with cystic fibrosis transmembrane conductance regulator modulators augment the airway functional microanatomy.Concerns about Genetic Testing for Schizophrenia among Young Adults at Clinical High Risk for Psychosis.Lung deposition of inhaled alpha-1-proteinase inhibitor (alpha 1-PI) - problems and experience of alpha1-PI inhalation therapy in patients with hereditary alpha1-PI deficiency and cystic fibrosis Diagnosis and management of familial Mediterranean fever: integrating medical genetics in a dedicated interdisciplinary clinic.Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.Cystic fibrosis genetics: from molecular understanding to clinical application.Gene delivery to the lungs: pulmonary gene therapy for cystic fibrosis.Cystic fibrosis carrier screening in Veneto (Italy): an ethical analysis.Chronic cough with normal sweat chloride: Phenotypic descriptions of two rare cystic fibrosis genotypes.Colistin susceptibility testing: evaluation of reliability for cystic fibrosis isolates of Pseudomonas aeruginosa and Stenotrophomonas maltophilia.Clinical and genetic features in patients with cystic fibrosis in southwestern iran.Modular microfluidic system as a model of cystic fibrosis airways.Analysis of c.3499+200TA(7_56) and D7S523 Microsatellites Linked to Cystic Fibrosis Transmembrane Regulator.Ceramide in cystic fibrosis: a potential new target for therapeutic intervention.Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency.Brazilian guidelines for the diagnosis and treatment of cystic fibrosis.Cystic fibrosis carrier screening in a North American population.Long noncoding RNA profiling revealed differentially expressed lncRNAs associated with disease activity in PBMCs from patients with rheumatoid arthritis.Spectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation.Enhanced frequency of CFTR gene variants in couples who are candidates for assisted reproductive technology treatment.p.Leu636Pro mutation is associated with cystic fibrosis transmembrane conductance regulator-related disorders (congenital bilateral absence of vas deferens).

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Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.

http://www.wikidata.org/entity/Q33608581

description

2008 nî lūn-bûn

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2008 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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2008 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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name

Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.

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Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.

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Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.

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Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.

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Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.

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Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.

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Genetics in Medicine

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Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.

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Darci L Sternen

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Edith Cheng

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Garry R Cutting

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James F Chmiel

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Ronald L Gibson

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Susan G Marshall

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P2860

TREATMENT OUTCOME OF TUBERCULOSIS UNDER DIRECTLY OBSERVED TREATMENT SHORT COURSE ( DOTS ) IN PATIENTS PRESENTING AT CHEST & TB HOSPITAL, AMRITSAR

Pregnancy in Cystic Fibrosis

Insulin and oral agents for managing cystic fibrosis-related diabetes

Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis.

Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel

The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel

Pharmacological induction of CFTR function in patients with cystic fibrosis: mutation-specific therapy.

Heritability of lung disease severity in cystic fibrosis.

Presence of cystic fibrosis-related diabetes mellitus is tightly linked to poor lung function in patients with cystic fibrosis: data from the European Epidemiologic Registry of Cystic Fibrosis.

Cystic fibrosis and pregnancy. Report from French data (1980-1999).

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cystic fibrosis

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