Results 161 to 170 of about 52,020 (257)

Early Acitretin Therapy in a Patient With Harlequin Ichthyosis

open access: yesJEADV Clinical Practice, EarlyView.
ABSTRACT Harlequin ichthyosis (HI) is a rare, severe congenital disorder of keratinization caused by pathogenic variants in the ABCA12 gene resulting in thick, hyperkeratotic plates, deep fissures, and characteristic facial and limb abnormalities.
Orasa Sukmark   +2 more
wiley   +1 more source

Meckel Gruber Syndrome [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2013
Jayeeta Roy, Manidip Pal
doaj   +1 more source

The Bazaar as a Model for Knowledge Work

open access: yesKnowledge and Process Management, EarlyView.
ABSTRACT This paper presents fieldwork that extends existing metaphors of knowledge work as a process shaped by hierarchical or market forces. A qualitative, ethnographic study of six knowledge‐intensive businesses in two countries identifies striking parallels with the Middle Eastern bazaar in contrast to Western impersonal markets and hierarchies. We
Reed Elliot Nelson   +2 more
wiley   +1 more source

Genome‐Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology

open access: yesMovement Disorders, EarlyView.
Abstract Background Recessive genetic variation and extended runs of homozygosity (ROHs) may contribute to the unexplained heritability of Parkinson's disease (PD), particularly in diverse and understudied populations. Objective We conducted the first large‐scale, multi‐ancestral investigation of PD to examine the impact of genome‐wide homozygosity on ...
Kathryn Step   +680 more
wiley   +1 more source

Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis

open access: yesMuscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Antonio Edvan Camelo‐Filho   +8 more
wiley   +1 more source

Moderate Diagnostic Yield of Exome Sequencing in Fetal Growth Restriction: Retrospective Insights

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To determine whether invasive genetic testing should be systematically proposed in cases of FGR. Methods Descriptive retrospective study of 159 FGR cases (defined by an estimated fetal growth < 3rd percentile, regardless of Doppler findings) managed at the Toulouse Fetal Medicine Center (TFMC) during 2022–2023.
Maud Langeois   +5 more
wiley   +1 more source

Home - About - Disclaimer - Privacy