Results 191 to 200 of about 261,045 (224)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Rhesus blood group haplotype determination by nanopore sequencing and adaptive sampling enables the precise determination of complex allele combinations that could not be accurately determined by standard methods. [PDF]

Transfusion
Waldmann R, Führer M, Vogt A, Nolde D, Riecker M, Herrlich LF, Dinse T, Schrezenmeier H, Weinstock C, Messerer DAC.   +9 more
europepmc   +1 more source

De novo genome assembly and annotation of Gnathostoma spinigerum. [PDF]

Parasit Vectors
González-Bertolín B, Monzón S, Zaballos Á, Jiménez P, Dekumyoy P, Adisakwattana P, Varona S, Cuesta I, Sumanam SB, Sotillo J, Hernández-González A, Marcos-Alcalde I, Gómez-Puertas P, Young ND, Perteguer MJ.   +14 more
europepmc   +1 more source

VLMs struggle to extract definitions of structural segments from MSA images: toward the design of a human-in-the-loop annotation pipeline for the PDB-Descriptome project. [PDF]

Genomics Inform
Sakuma K.
europepmc   +1 more source

Genome of Facultatively Parthenogenetic Harvester (Opiliones) Indicates Frequent Mitonuclear Sequence Transfer and Novel Full-Length Insertions. [PDF]

Genome Biol Evol
Stellwagen SD, Burns M.
europepmc   +1 more source

A chromosomal-level genome assembly of Phoxinus grumi (Cypriniformes: Leuciscidae). [PDF]

Sci Data
Wang J, Chang H, Yang P, Wang X, Li X, He Y, Gao M, Guo W.   +7 more
europepmc   +1 more source

Manual curation for improved genome annotation of the functionally extinct northern white rhinoceros (Ceratotherium simum cottoni). [PDF]

PLoS One
Ruggeri E, Prunier J, Sirard MA, Durrant B, Klohonatz K.   +4 more
europepmc   +1 more source