Rare Variants Cause Charcot‐Marie‐Tooth Disease in Malian Families
ABSTRACT Introduction/Aims Charcot‐Marie‐Tooth disease (CMT), the most common inherited peripheral neuropathy, is clinically and genetically heterogeneous with over 100 genes identified to date. Recently, next‐generation sequencing (NGS) has enabled molecular diagnosis in previously unidentified CMT cases.
Abdoulaye Yalcouyé+16 more
wiley +1 more source
Endovascular Embolization Through Grafts for Recurrent Giant Complex Internal Carotid Artery Aneurysms After Combined Microsurgical Low-Flow With Subsequent High-Flow Revascularization and Parent Artery Occlusion. [PDF]
Nurimanov C+4 more
europepmc +1 more source
We have developed a new, quantitative method of assessing the variation on paleosurfaces. This method uses functions from the molaR package of R, including new functions detailed here. This paper tests the functions on the eggshell surfaces of extant emu (Dromaius novaehollandiae) and fossil oviraptorosaur eggs of the ootaxon Macroelongatoolithus ...
Joshua Hedge+2 more
wiley +1 more source
Effective Management of a Giant Deforming Pleomorphic Adenoma With Airway Displacement in a 93-Year-Old Patient: A Case Report. [PDF]
Palomino-Payan JA+4 more
europepmc +1 more source
Abstract To facilitate geological studies of the Antarctic region south of 60°S, equivalent point magnetic dipole inversion was used to produce the comprehensive airborne‐to‐satellite altitude ADMAP‐2s magnetic anomaly model. These spherical coordinate anomaly predictions jointly match the crustal magnetic anomalies gridded at 250 km above the Earth's ...
H. R. Kim+6 more
wiley +1 more source
Complete mitochondrial genome of the Satanas beetle, Dynastes satanas Moser, 1909 (Coleoptera: Scarabaeidae). [PDF]
He X, Wei S, Li P, Li X.
europepmc +1 more source
Abstract Post‐collisional mafic rocks not only record geodynamic processes at the end of the orogenic cycle but also retain various clues regarding preceding interactions between subducted slabs and mantle wedges. However, the latter and related indicators have often been overlooked; in particular, how the continental crust interacts with the mantle in
Xiangyu Gao+7 more
wiley +1 more source
A case of preoperative embolization for a giant hypervascular pancreatic serous cystic neoplasm in pancreaticoduodenectomy. [PDF]
Matsuyoshi T+14 more
europepmc +1 more source
Our findings reveal that the western black crested gibbon (Nomascus concolor) did not divide into different subspecies, and the relatively low level of genetic diversity emphasizes the importance of monitoring this indicator for vulnerable wildlife.
Siqiong LIU+15 more
wiley +1 more source
Intralobar pulmonary sequestration complicated by a giant supplying artery aneurysm presenting for 9 years: a case report. [PDF]
Weng W+7 more
europepmc +1 more source