Results 221 to 230 of about 2,869,706 (297)

VIRUS-LIKE PARTICLES IN USTILAGO MAYDIS: MUTANTS WITH PARTIAL GENOMES [PDF]

, 1977
Y. Koltin
openalex   +1 more source

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

A gap-free reference genome of Populus deltoides provides insights into karyotype evolution of Salicaceae. [PDF]

BMC Biol
Bi C, Sun N, Hou Z, Dai X, Wu H, Han F, Wang Z, Yin T.   +7 more
europepmc   +1 more source

Translation of the L-species dsRNA genome of the killer-associated virus-like particles of Saccharomyces cerevisiae.

, 1977
James E. Hopper, Keith A. Bostian, Lucy B. Rowe, Donald J. Tipper   +3 more
openalex   +1 more source

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic‐Berkmen, Ai Huey Tan, Shen‐Yang Lim, Ebba Lohmann, Kaja M. Schröder, Lea Ipsen, Lena A. Nothacker, Linn Welzel, Alexandra S. Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E. Zeuner, Friederike Schumann, Andrea A. Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E. Lang, Yi Wen Tay, Ana Luísa de Almeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S. Perlmutter, Jeanne S. Feuerstein, Victor S. C. Fung, Florence Chang, Richard L. Barbano, Steven Bellows, Aparna A. Wagle Shukla, Alberto J. Espay, Mark S. LeDoux, Brian D. Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H. A. Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann   +47 more
wiley   +1 more source

Chromosome-level assembly and annotation of the yellow-shelled fish (Barbodes Wynaadensis). [PDF]

Sci Data
Shen Q, Wu J, Yang C, Sheng Q, Xu M, Yi S, Song J.   +6 more
europepmc   +1 more source

A partial map of the circular mitochondrial genome of Drosophila melanogaster. Location of EcoRI-sensitive sites and the adenine-thymine-rich region. [PDF]

, 1976
David R. Wolstenholme, Christiane M.‐R. Fauron   +1 more
openalex   +1 more source

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

BASys2: a next-generation bacterial genome annotation system. [PDF]

Nucleic Acids Res
Poelzer J, Han S, Saha S, Oler E, Kruger R, Berjanskii M, MacKay S, Wishart DS.   +7 more
europepmc   +1 more source

The Number of Mitochondrial Deoxyribonucleic Acid Genomes in Mouse L and Human HeLa Cells

, 1974
Daniel Bogenhagen, David A. Clayton
openalex   +1 more source