Results 221 to 230 of about 239,120 (310)

A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation [PDF]

, 2019
Ahmed, Alia, Chen, Agnes, Dickson, Patricia, Eisengart, Julie B, King, Kelly, Ou, Li, Rudser, Kyle, Shapiro, Elsa, Whitley, Chester B   +8 more
core   +1 more source

Differing MODY subtypes in a single family: A case report on monogenic diabetes, a CARE-compliant article. [PDF]

Medicine (Baltimore)
Hart SC, Pardue R.
europepmc   +1 more source

Analysis of Colorectal Cancer Gene Mutations and Application of Long Blocker Displacement Amplification Technology for High-Throughput Mutation Detection. [PDF]

Biosensors (Basel)
Lu P, Su X, Leong S, Xiu X, Song P, Peng J, Si Y.   +6 more
europepmc   +1 more source

Genetic Risk Factors in Normal Pressure Hydrocephalus: What We Know and What Is Next

Movement Disorders, EarlyView.
Abstract Knowledge of the genetic factors in normal pressure hydrocephalus (NPH) is rapidly evolving, with significant advances in recent years. We conducted a systematic review examining genetic contributions to NPH risk. Ovid Embase, Ovid Medline, Web of Science, and Cochrane Central were searched from inception through October 14, 2024, for human ...
Camila C. Piccinin, Saar Anis, Jeryl Ritzi T. Yu, Philippe A. Salles, Henry Mauricio Chaparro‐Solano, Avery Kundrick, Shelley Ivary, James Y. Liao, Sean J. Nagel, Ignacio F. Mata   +9 more
wiley   +1 more source

DiffInvex identifies evolutionary shifts in driver gene repertoires during tumorigenesis and chemotherapy. [PDF]

Nat Commun
Khalil A, Supek F.
europepmc   +1 more source

Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase

Movement Disorders, EarlyView.
Abstract Background Defects of mitochondrial ATP synthase (ATPase) represent an emerging, yet incompletely understood group of neurodevelopmental diseases with abnormal movements. Objective The aim of this study was to redefine the phenotypic and mutational spectrum of movement disorders linked to the ATPase subunit‐encoding genes ATP5F1A and ATP5F1B ...
Philip Harrer, Magdalena Krygier, Martin Krenn, Volker Kittke, Martin Danis, Georgi Krastev, Alice Saparov, Virginie Pichon, Marlène Malbos, Clarisse Scherer, Ivana Dzinovic, Matej Skorvanek, Robert Kopajtich, Holger Prokisch, Sara Silvaieh, Anna Grisold, Maria Mazurkiewicz‐Bełdzińska, Jean‐Madeleine de Sainte Agathe, Juliane Winkelmann, Jan Necpal, Robert Jech, Michael Zech   +21 more
wiley   +1 more source

Application of RNA-seq for single nucleotide variation identification in a cohort of patients with hypertrophic cardiomyopathy. [PDF]

Sci Rep
Chumakova A, Vlasov I, Filatova E, Klass A, Lysenko A, Salagaev G, Shadrina M, Slominsky P.   +7 more
europepmc   +1 more source

Multiple Scalp and Neck Lesions in an 80‐Year‐Old Man

JEADV Clinical Practice, EarlyView.
Stephanie L. Ryan, Nicholas Stefanovic, Li J. H. Yoo, Richard Watchorn, Christian Gulmann, Gregg Murray   +5 more
wiley   +1 more source

Integrated Phenotypic and Genotypic Approaches for Accurate Diagnosis of G6PD Deficiency: Implications for Drug Safety in Thailand. [PDF]

Pharmacol Res Perspect
Pengsuk N, Chamchoy K, Duangdee C, Satayarak J, Saralamba N, Nguitragool W, Boonyuen U.   +6 more
europepmc   +1 more source

Decoding Gene Expression Changes in Cerebral Tumors: Before and After Radiotherapy

Medicinal Research Reviews, EarlyView.
ABSTRACT Cerebral tumors, particularly in pediatric patients, pose a significant challenge in oncology. Radiotherapy is a crucial component of the multimodal treatment approach for these tumors. Understanding the molecular basis of these tumors, particularly their response to radiotherapy, is crucial for improving treatment outcomes and patient ...
Ahana Maitra, Morena Miciaccia, Manuela Mandorino, Domenico Armenise, Olga Maria Baldelli, Savina Ferorelli, Ludmila Papusha, Alexander Druy, Maria Grazia Perrone, Antonio Scilimati   +9 more
wiley   +1 more source