Results 141 to 150 of about 127,421 (299)

A new HLA-DQA1 RFLP allele [DQα3b] distinguishes between DQα genes of DQw2–DR3 and DQw3–DR5 haplotypes

open access: green, 1989
Jorge Martı́nez-Laso   +5 more
openalex   +2 more sources

RAB32‐Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe Criteria

open access: yesMovement Disorders, EarlyView.
Abstract Background The RAB32 p.Ser71Arg variant is a novel cause of monogenic Parkinson's disease (PD), for which detailed phenotypic information is currently scarce. Objectives Our aim was to clinically and biologically characterize individuals with PARK‐RAB32 to gain insights into genotype–phenotype relationships, disease severity, and underlying ...
Teresa Kleinz   +27 more
wiley   +1 more source

Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

open access: yesMovement Disorders, EarlyView.
Abstract Background Although many individuals with dystonia present with features indicative of single‐gene etiologies, obtaining definitive genetic diagnoses can be challenging. Objective We assessed the value of nanopore‐based long‐read sequencing (LRS) in achieving molecular clarification of dystonic syndromes.
Ugo Sorrentino   +30 more
wiley   +1 more source

Diversity of MHC-B SNP haplotypes in the Vietnamese Ri chicken. [PDF]

open access: yesJ Anim Sci Technol
Nam S   +7 more
europepmc   +1 more source

Abnormal Serum Lipid Levels and Ocular Metabolic Mediators in Adult‐Onset Myopia: A Cohort Study

open access: yesMedicine Advances, EarlyView.
Elevated levels of “good cholesterol” markers apolipoprotein A (APOA) and high‐density lipoprotein cholesterol (HDL‐C) were prospectively associated with an increased risk of developing adult‐onset myopia, whereas higher levels of “bad cholesterol” markers apolipoprotein B (APOB) and low‐density lipoprotein cholesterol (LDL‐C) were associated with a ...
Feipeng Jiang   +9 more
wiley   +1 more source

Haplotyp [PDF]

open access: yes, 2018
openaire   +1 more source

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