Results 241 to 250 of about 1,655,249 (351)

The evolution of prenatal Whole Exome Sequencing: from cytogenetics to precision medicine. [PDF]

Arch Clin Cases
Săbău ID, Bohîlţea LC, Varlas V, Gheorghe AS, Riza M, Suciu N, Ceauşu I.   +6 more
europepmc   +1 more source

Review: modern molecular genetic techniques [PDF]

Immunohematology, 1993
openaire   +3 more sources

Real‐World Comparison of High‐Efficacy Versus Non‐High‐Efficacy Therapies in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The choice of the first disease modifying treatment (DMT) in multiple sclerosis (MS) is a topic of great interest, and whether high‐efficacy DMTs should be the first choice remains debated. We compared treatment outcomes (no evidence of disease activity [NEDA] and its components) between treatment‐naïve relapsing–remitting MS (RRMS ...
Sarmad Al‐Araji, Marcello Moccia, Alessia Bianchi, Charmaine Yam, Weaam Hamed, Suraya Mohamud, Alan J. Thompson, Frederik Barkhof, Ahmed T. Toosy, Olga Ciccarelli   +9 more
wiley   +1 more source

AI-driven genetic algorithm-optimized lung segmentation for precision in early lung cancer diagnosis. [PDF]

Sci Rep
Said Y, Ayachi R, Afif M, Saidani T, Alanezi ST, Saidani O, Algarni AD.   +6 more
europepmc   +1 more source

Identification of Dementia With Lewy Bodies by Skin Biopsy in Recent‐Onset Cognitive Impairment

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Immunofluorescence for phosphorylated alpha‐synuclein in skin biopsy samples is an emerging biomarker in synucleinopathies comprising Dementia with Lewy bodies. In this pilot study, 19 patients with recent‐onset (≤ 18 months) cognitive impairment underwent skin biopsy at baseline, with follow‐up clinical re‐evaluation.
Alessandro Furia, Alex Incensi, Cecilia Delprete, Giovanni Rizzo, Salvatore Bonvegna, Marco Piatti, Enrica Olivola, Francesco Ventruto, Veria Vacchiano, Enrico Fileccia, Roberto Cilia, Nicola Modugno, Rocco Liguori, Vincenzo Donadio   +13 more
wiley   +1 more source

Advancing genome-based precision medicine: a review on machine learning applications for rare genetic disorders. [PDF]

Brief Bioinform
Abbas SR, Abbas Z, Zahir A, Lee SW.
europepmc   +1 more source

Molecular genetics and diagnostic techniques [PDF]

, 2000
openaire   +2 more sources

Discovery and Treatment of Action Potential‐Independent Myotonia in Hyperkalemic Periodic Paralysis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hyperkalemic periodic paralysis (hyperKPP) is characterized by attacks of transient weakness. A subset of hyperKPP patients suffers from transient involuntary contraction of muscle (myotonia). The goal of this study was to determine mechanisms causing myotonia in hyperKPP.
Chris Dupont, Adam Deardorff, Murad Nawaz, Andrew A. Voss, Mark M. Rich   +4 more
wiley   +1 more source

Genomic privacy and security in the era of artificial intelligence and quantum computing. [PDF]

Discov Comput
Annan R, Noland J, Perkins K, Yuan X, Roy K, Qingge L.   +5 more
europepmc   +1 more source

Digital Activity Markers in Chronic Inflammatory Demyelinating Polyneuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the utility of smartwatch and smartphone‐based activity metrics for assessing disease severity and quality of life in patients with chronic inflammatory demyelinating polyneuropathy (CIDP). Methods In the electronic monitoring of disease activity in patients with CIDP (EMDA‐CIDP) trial, we performed a prospective ...
Lars Masanneck, Jan Voth, Noëmi Gmahl, Konstantin Jendretzky, Niklas Huntemann, Noah M. Werner, Linea Schmidt, Menekse Oeztuerk, Paula Quint, Christina B. Schroeter, Hans Peter Hartung, Thomas Skripuletz, Gerd Meyer zu Hörste, Tobias Ruck, Sven G. Meuth, Marc Pawlitzki   +15 more
wiley   +1 more source