Results 231 to 240 of about 241,061 (333)

Identification of a Missense Mutation in the FLNC Gene from a Chinese Family with Restrictive Cardiomyopathy [Letter]. [PDF]

J Multidiscip Healthc
Idrus HH.
europepmc   +1 more source

Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRTIsar): A further example of clinical heterogeneity in HPRT deficiencies

, 1995
Renate Burgemeister, E. Rötzer, Wolf Gutensohn, M. Gehrke, W. Schiel   +4 more
openalex   +1 more source

Genetic and Molecular Analysis of a tRNALeu Missense Suppressor of nudC3, a Mutation That Blocks Nuclear Migration in Aspergillus nidulans [PDF]

, 1997
Ya-Hui Chiu, N. Ronald Morris
openalex   +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

Pre-gestational diabetes in a young woman with a pathogenic INSR missense mutation, p.(Met1180Lys). [PDF]

Endocrinol Diabetes Metab Case Rep
Prehn EL, Crowley M, Fennell D, Kinsley BT, Colclough K, Byrne MM.   +5 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

The novel SERPINC1 missense mutation c.1148 T > A (p.L383H) causes hereditary antithrombin deficiency and thromboembolism in a Chinese family: a case report. [PDF]

J Med Case Rep
He F, Wang Y, Ning W, Liu C, Guan X, Yao Y.   +5 more
europepmc   +1 more source

Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals

, 1998
Stefan Ries, Christa Büchler, Gisela Schindler, Charalampos Aslanidis, Detlev Ameis, Christoph Gasché, Nikola Jung, Axel Schambach, Petra Fehringer, Marie T. Vanier, Dominique C. Belli, Heiner Greten, Gerd Schmitz   +12 more
openalex   +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

A novel <i>SIGMAR1</i> missense mutation leads to distal hereditary motor neuropathy phenotype mimicking juvenile ALS: a case report of China. [PDF]

Front Genet
Yu Q, Mohammed Nazar RB, Chen S, Qian Q, Wang J, Chen X.   +5 more
europepmc   +1 more source