Results 271 to 280 of about 1,061,223 (312)
A Novel Renal Manifestation in <i>GLIS3</i>-Related Disorder in a Pediatric Patient With Cystic Nephroma. [PDF]
J Med CasesAlharbi I +3 more
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Imaging diagnosis of Caroli-like disease with concurrent extrahepatic biliary obstruction in a young small-breed dog: case report. [PDF]
Front Vet SciPark J, Cho SY, Kiupel M, Lee K, Yoon H.
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Sinonasal and Pulmonary Computed Tomography Images Before and After Triple-Combination Therapy in a Patient with Cystic Fibrosis Without ΔF508 Mutations. [PDF]
Diagnostics (Basel)Tagliati C +5 more
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A Case of Clear Cell Papillary Renal Cell Tumor: A Rare Entity With an Unusual Presentation. [PDF]
Clin Case RepMontazer M +3 more
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Mucinous cystic neoplasms of the liver: current insights into epidemiology, diagnosis, and treatment. [PDF]
Front SurgMurshid M +9 more
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Journal of the American Medical Association (JAMA), 2023
Importance Cystic fibrosis, a genetic disorder defined by variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, affects more than 30 000 individuals in the US and approximately 89 000 worldwide.
T. Ong, B. Ramsey
semanticscholar +1 more source
Importance Cystic fibrosis, a genetic disorder defined by variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, affects more than 30 000 individuals in the US and approximately 89 000 worldwide.
T. Ong, B. Ramsey
semanticscholar +1 more source
The Lancet, 2021
Cystic fibrosis is a monogenic disease considered to affect at least 100 000 people worldwide. Mutations in CFTR, the gene encoding the epithelial ion channel that normally transports chloride and bicarbonate, lead to impaired mucus hydration and ...
M. Shteinberg +3 more
semanticscholar +1 more source
Cystic fibrosis is a monogenic disease considered to affect at least 100 000 people worldwide. Mutations in CFTR, the gene encoding the epithelial ion channel that normally transports chloride and bicarbonate, lead to impaired mucus hydration and ...
M. Shteinberg +3 more
semanticscholar +1 more source
The Lancet, 2016
Cystic fibrosis is a common life-limiting autosomal recessive genetic disorder, with highest prevalence in Europe, North America, and Australia. The disease is caused by mutation of a gene that encodes a chloride-conducting transmembrane channel called ...
M. Di Paolo +3 more
semanticscholar +1 more source
Cystic fibrosis is a common life-limiting autosomal recessive genetic disorder, with highest prevalence in Europe, North America, and Australia. The disease is caused by mutation of a gene that encodes a chloride-conducting transmembrane channel called ...
M. Di Paolo +3 more
semanticscholar +1 more source