Results 281 to 290 of about 791,916 (337)
Young-Onset Gastric Cancer: Clinical and Genetic Perspectives. [PDF]
J Gastric CancerMichelon I, Saeed A.
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Fumarate Hydratase-Deficient Uterine Leiomyomas in Appalachian Women: A Case Series Highlighting Cancer Disparities in Underserved White Populations. [PDF]
CureusSigdel S +4 more
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Processed Transcript Insertion as a Novel Germline Mutational Mechanism in <i>BRCA1</i>-Associated Hereditary Breast Cancer. [PDF]
Cancers (Basel)Bozsik A +8 more
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Natural history in hereditary spastic paraplegias: real-world data from an Austrian cohort. [PDF]
J NeurolAmprosi M +6 more
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The landmark contribution by Erik von Willebrand. [PDF]
HaematologicaLassila R, Berntorp E.
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Acta Oncologica, 1999
Cancer cases are often clustered in certain families and pedigree analysis indicates that at least 5% of cancer patients have a genetic predisposition to the disease. During the past decade the basic mechanisms for hereditary cancer have been outlined and a large number of the genes involved have been identified.
A, Lindblom, M, Nordenskjöld
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Cancer cases are often clustered in certain families and pedigree analysis indicates that at least 5% of cancer patients have a genetic predisposition to the disease. During the past decade the basic mechanisms for hereditary cancer have been outlined and a large number of the genes involved have been identified.
A, Lindblom, M, Nordenskjöld
openaire +2 more sources
2023
The hereditary neuropathies, collectively referred as Charcot-Marie-Tooth disease (CMT) and related disorders, are heterogeneous genetic peripheral nerve disorders that collectively comprise the commonest inherited neurological disease with an estimated prevalence of 1:2500 individuals. The field of hereditary neuropathies has made significant progress
Chiara, Pisciotta, Michael E, Shy
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The hereditary neuropathies, collectively referred as Charcot-Marie-Tooth disease (CMT) and related disorders, are heterogeneous genetic peripheral nerve disorders that collectively comprise the commonest inherited neurological disease with an estimated prevalence of 1:2500 individuals. The field of hereditary neuropathies has made significant progress
Chiara, Pisciotta, Michael E, Shy
openaire +2 more sources
Metabolism, 2018
Hereditary galactosemia is an inborn error of carbohydrate metabolism. Galactose is metabolized by Leloir pathway enzymes; galactokinase (GALK), galactose-1-phosphate uridylyltransferase (GALT) and UDP-galactose 4-epimerase (GALE). The defects in these enzymes cause galactosemia in an autosomal recessive manner.
Demirbas, Didem +3 more
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Hereditary galactosemia is an inborn error of carbohydrate metabolism. Galactose is metabolized by Leloir pathway enzymes; galactokinase (GALK), galactose-1-phosphate uridylyltransferase (GALT) and UDP-galactose 4-epimerase (GALE). The defects in these enzymes cause galactosemia in an autosomal recessive manner.
Demirbas, Didem +3 more
openaire +2 more sources