Results 181 to 190 of about 405,571 (332)

Corpora and beyond – investigating evaluation in discourse: introduction to the special issue on corpus approaches to evaluation

, 2016
Stanisław Goźdź‐Roszkowski, Susan Hunston   +1 more
openalex   +2 more sources

The corpora management system based on Java and Oracle technologies [PDF]

, 2003
Serge Yablonsky
openalex   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Diversity as the Fuel of Theory: Demographic Biases in CHILDES and Its Commentaries. [PDF]

Dev Sci
Scaff C, Loukatou G, Cristia A, Havron N.   +3 more
europepmc   +1 more source

A Study on Problems which Occur in Compiling a dictionary using corpora

, 2011
최정도
openalex   +1 more source

Morphological annotation of social media corpora with reference to its reliability for linguistic research

, 2021
Mariia Michurina, Alexandra Ivoylova, N.I. Kopylov, Daniil Selegey, Nikolay Kopylov, ABBYY Lab, MIPT, Dolgoprudny, Russia, Daniil Selegey, ABBYY Lab, MIPT, Dolgoprudny, Russia   +7 more
openalex   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Penile Pseudomyogenic Hemangioendothelioma: Diagnostic and Therapeutic Considerations. [PDF]

Cureus
Nsair A, Eigner E, Farkash I, Shabataev V, Zisman A.   +4 more
europepmc   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Contact and complexity in English varieties: The influence of speaker numbers on syntheticity and grammaticity. [PDF]

PLoS One
Ehret K.
europepmc   +1 more source