Suchergebnisse - CFTR mutation screening

1

Application of pyrosequencing to the identification of sequence variations in the cystic fibrosis transmembrane conductance regulator gene

von: Mari, Caterina

2009, in: Clinical chemistry and laboratory medicine

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2

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy

von: D'Apice, Maria Rosaria

2004, in: BMC medical genetics

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3

CFTR Modulator Therapy for Rare CFTR Mutants

von: Marco Mergiotti

2022, in: Journal of Respiration

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4

Screening for cystic fibrosis in New York State: considerations for algorithm improvements

von: Kay, Denise M.

2015, in: European journal of pediatrics

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5

FDA-approved drug screening in patient-derived organoids demonstrates potential of drug repurposing for rare cystic fibrosis genotypes

von: de Poel, E.

2023, in: Journal of cystic fibrosis

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6

A Low-Cost and Simple Genetic Screening for Cystic Fibrosis Provided by the Brazilian Public Health System

von: Rispoli, Thaiane

2018, in: The journal of pediatrics

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7

Newborn screening for CF in France: An exemplary national experience

von: Audrézet, M.P.

2020transfer abstract, in: Archives de pédiatrie

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8

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy

von: Nardone Anna

2004, in: BMC Medical Genetics

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9

Two years of newborn screening for cystic fibrosis in North Macedonia: First experience

von: Fustik S

2021, in: Balkan Journal of Medical Genetics

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10

Genetic attributes of Iranian cystic fibrosis patients: the diagnostic efficiency of CFTR mutations in over a decade

von: Amin Hosseini Nami

2023, in: Frontiers in Genetics

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11

CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine

von: Miquéias Lopes-Pacheco

2020, in: Frontiers in Pharmacology

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12

Newborn Screening for Cystic Fibrosis

von: Sharp, Jack K.

2008, in: Clinical reviews in allergy & immunology

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13

Frequency of 8 CFTR gene mutations in cystic fibrosis patients in Minas Gerais, Brazil, diagnosed by neonatal screening

von: C. Perone

2010, in: Brazilian Journal of Medical and Biological Research

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14

Toward quality improvement in cystic fibrosis newborn screening : progress and continuing challenges

von: Farrell, Philip M.

10 May 2016, in: Journal of cystic fibrosis

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