Results 31 to 40 of about 253,047 (116)

Expanding the genetic landscape of <i>SLC4A1</i>-linked hereditary spherocytosis: discovery of a novel TM9 variant using high-resolution genomic profiling analysis. [PDF]

Front Genet
More TA, Kedar PS.
europepmc   +1 more source

Secondary Acrodermatitis Enteropathica in a Premature Low-Birth-Weight Infant: A Case Report. [PDF]

Cureus
AlFadhel N, AlQusaimi R, Mosbeh A, Albazali A.   +3 more
europepmc   +1 more source

Population Genomic Screening for Hereditary Cancer Risk: Patient Experience, Perceptions, and Downstream Clinical Outcomes. [PDF]

J Genet Couns
English S, Malphrus L, Norman S, Baker NL, Judge DP, Wagner I, Allen CG.   +6 more
europepmc   +1 more source

Progress, challenges, and future directions of pancreatic cancer surveillance in high-risk populations. [PDF]

Commun Med (Lond)
Poh AR, Sexton A, Pietrzak H, De Losa R, Garcia R, Heriot N, Winship I, Metz AJ.   +7 more
europepmc   +1 more source

Beyond Swelling: Clinical Insights into the Diagnosis and Management of Hereditary Angioedema. [PDF]

Int J Mol Sci
Paulauskiene M, Tamasauskiene L, Gradauskiene B.   +2 more
europepmc   +1 more source

Closing the Diagnostic Gap in Early-Onset Colorectal Cancer: Red-Flag Symptoms, Screening, and Inherited Risk. [PDF]

Cancers (Basel)
Martin-Moreno JM, Cabañas-Alite L, Fernández-Benet IE, Sánchez-Casalongue M, Alegre-Martinez A.   +4 more
europepmc   +1 more source

Pregnancy Complicated by Hereditary Antithrombin Deficiency: A Case Study and Insights From the Literature. [PDF]

Clin Case Rep
Zhao Y, Yin J, Song J, Zhao Y, Zhang Y.
europepmc   +1 more source

Pedigree analysis of cerebral venous sinus thrombosis associated with compound heterozygous hereditary protein S deficiency. [PDF]

Ann Hematol
Chen X, Hu B, Ke B, Dai C, Li X, Wu C, Zou M.   +6 more
europepmc   +1 more source

Case Report: Elderly anti-GBM antibody disease with diffuse non-hereditary glomerular basement membrane thinning of uncertain etiology. [PDF]

Front Med (Lausanne)
Yu P, Yang W, Weiwei Z, Song Y, Zhong Y, Li Z, Chen Y, Sun W, Zhao J.   +8 more
europepmc   +1 more source