Results 201 to 210 of about 977,473 (267)

Molecular Diagnosis in Hymenoptera Allergy: Comparison of Euroline DPA-Dx and ImmunoCAP. [PDF]

Toxins (Basel)
Marquès L, Vega A, de la Roca F, Domínguez C, Soriano-Gomis V, Alfaya T, Ferré-Ybarz L, Vega JM, Tubella M, Ruiz-León B.   +9 more
europepmc   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

A 30-Year Experience in Fragile X Syndrome Molecular Diagnosis from a Laboratory in Thailand. [PDF]

Int J Mol Sci
Hnoonual A, Plong-On O, Tangviriyapaiboon D, Charalsawadi C, Limprasert P.   +4 more
europepmc   +1 more source

Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT In this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron accumulation in those same compartments within primary brain tissue.
Christina L. Nemeth, Mert Sisman, Jinwei Zhang, Hyeong‐geol Shin, Xu Li, Bela Turk, Ali Fatemi, Thanh Nguyen, Eric Mallack   +8 more
wiley   +1 more source

Molecular Diagnosis and Identification of a Novel Pathogenic Variant in Autosomal Dominant Polycystic Kidney Disease (ADPKD): A Case in Full Bloom. [PDF]

Cureus
Pallas D, Betsikos A, Zafeirouli V, Geladari V, Sabanis N.   +4 more
europepmc   +1 more source

Molecular Diagnosis of Thyroid Nodules Using Next-Generation Sequencing in the Chinese Population. [PDF]

Int J Endocrinol
Chen H, Liu W, Chen Y, Jiang Z, Ren Y, Wu J, Liu R, Zhu M, Zhang H, Ji Y.   +9 more
europepmc   +1 more source

Molecular diagnosis of campylobacter splenic abscess in an immunocompetent adolescent: A case report and literature review. [PDF]

IDCases
Zara S, Koleri J, Ali M, Abid F, Parengal J, Hamed MM, Maslamani MA.   +6 more
europepmc   +1 more source

The impact of Schistosoma haematobium hybridization on molecular diagnosis of schistosomiasis: A review with emphasis on female genital schistosomiasis. [PDF]

PLoS Negl Trop Dis
Ally O, Kanoi BN, Mmbando GS, Nyanjom SG, Mnyone LL, Gitaka J, Misinzo G, Ochola L.   +7 more
europepmc   +1 more source

Predicting glioma histo-molecular diagnosis and prognosis: preoperative dynamic contrast-enhanced magnetic resonance imaging insights. [PDF]

Quant Imaging Med Surg
Ma H, Zeng S, Huang Y, Xie D, Mazu L, Zhu N, Zhao J, Yang Z, Chu J.   +8 more
europepmc   +1 more source