Results 241 to 250 of about 99,476 (367)

Genetic Association of Primary Angle‐Closure Glaucoma and Disease Progression

open access: yesClinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background To investigate single‐nucleotide polymorphisms (SNPs) reported in the largest up‐to‐date systematic review and meta‐analysis on primary angle‐closure disease (PACD), on their associations with primary angle‐closure glaucoma (PACG) and disease progression.
Yu Jing Liang   +6 more
wiley   +1 more source

Guanine nucleotides are potent secretagogues in permeabilized parathyroid cells [PDF]

open access: bronze, 1986
Marguerite Oetting   +4 more
openalex   +1 more source

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients

open access: yesClinical Genetics, EarlyView.
This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut   +7 more
wiley   +1 more source

Multipla: Multiscale Pangenomic Locus Analysis

open access: yesComputer Graphics Forum, EarlyView.
Abstract Comparing gene organization across genomic sequences reveals insights into evolutionary and functional diversity among different organisms and varieties. Performing this task across many sequences, such as from a pangenome, is challenging because of the scale, the density of information, and the inherent variation. Often, analyses are centered
A. van den Brandt   +6 more
wiley   +1 more source

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