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Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants. [PDF]

open access: yesJCO Precis Oncol
Martins N   +34 more
europepmc   +1 more source

Genotype-phenotype correlations and protein domain-level predictors of cerebrovascular malformations in hereditary hemorrhagic telangiectasia. [PDF]

open access: yesJ Neurol
Sturiale CL   +11 more
europepmc   +1 more source

Blueprint for building a patient-centered hereditary cancer program based on stakeholder perspectives. [PDF]

open access: yesGynecol Oncol Rep
Soussana TN   +6 more
europepmc   +1 more source
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Hereditary factor XIII deficiency

The Indian Journal of Pediatrics, 1993
Twelve cases of hereditary factor XIII (FX III) deficiency diagnosed over five years (1986-1990) at Christian Medical College and Hospital, Vellore are presented here. Although all the cases had a history of umbilical cord bleeding and subsequent frequent bleeding episodes, diagnosis was considerably delayed.
A P, Patel   +4 more
openaire   +2 more sources

Hereditary Labile Factor (Factor V) Deficiency

JAMA, 1961
Hereditary labile factor (Factor V) deficiency is transmitted as an autosomal recessive. Only individuals who inherit the defective gene from both parents are bleeders. In the family studied, the father is Greek while the mother is Polish. The diagnosis is made by determining the prothrombin time by the one-stage method, which is completely corrected ...
I A, FRIEDMAN   +4 more
openaire   +2 more sources

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