Rapid nonradioactive detection of the major cystic fibrosis mutation

Gastric Embolization as Treatment for Overweight Patients; Efficacy and Safety.

Cardiovascular and interventional radiology·2018

Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35.

Muscle & nerve. Supplement·2013

Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations.

Genetic testing·2002

Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31.

Genomics·2001

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

Nature genetics·2001

Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients.

Human biology·2001

Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation.

American journal of human genetics·2026

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

American journal of human genetics·2026

Beyond exons: Linking noncoding heritability and polygenicity across complex human traits and disorders.

American journal of human genetics·2026

Phenome- and laboratory-wide meta-analyses of sickle cell trait reveal multi-system disease associations.

American journal of human genetics·2026

Mutation rate heterogeneity biases variant effect prediction and reveals genuine mutational robustness.

American journal of human genetics·2026

A phenotypic paradigm for cerebral palsy genetics.

American journal of human genetics·2026

Prospective Evaluation of Single-Time-Point Methotrexate Monitoring During High-Dose Therapy in Pediatric Leukemias and Lymphomas.

Pediatric blood & cancer·2026

Elecsys pT181p immunoassay: Clinical performance for ruling out amyloid pathology.

Alzheimer's & dementia (Amsterdam, Netherlands)·2026

Clinical risk factors and machine learning-assisted interpretation of ureteral access sheath insertion failure: a multicenter study and meta-analysis.

Frontiers in surgery·2026

In-house designed Multiplex Real-Time PCR Assay Developed for Epstein - Barr virus and Cytomegalovirus DNA detection in Pooled Blood Samples from Iraqi blood donors.

F1000Research·2026

Mobile cone-beam computed tomography combined with electromagnetic navigation bronchoscopy for the diagnosis of peripheral pulmonary nodules.

Pulmonology·2026

Long-term cardiac remodeling after transjugular intrahepatic portosystemic shunt placement: a cardiac MRI study.

European radiology·2026

Related Experiment Videos

Rapid nonradioactive detection of the major cystic fibrosis mutation

Related Concept Videos

Gastric Embolization as Treatment for Overweight Patients; Efficacy and Safety.

Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35.

Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations.

Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31.

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients.

Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Beyond exons: Linking noncoding heritability and polygenicity across complex human traits and disorders.

Phenome- and laboratory-wide meta-analyses of sickle cell trait reveal multi-system disease associations.

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Prospective Evaluation of Single-Time-Point Methotrexate Monitoring During High-Dose Therapy in Pediatric Leukemias and Lymphomas.

Elecsys pT181p immunoassay: Clinical performance for ruling out amyloid pathology.

Clinical risk factors and machine learning-assisted interpretation of ureteral access sheath insertion failure: a multicenter study and meta-analysis.

In-house designed Multiplex Real-Time PCR Assay Developed for Epstein - Barr virus and Cytomegalovirus DNA detection in Pooled Blood Samples from Iraqi blood donors.

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Rapid nonradioactive detection of the major cystic fibrosis mutation

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