Results 181 to 190 of about 711,318 (316)

An Arabic Sign Language Corpus for Instructional Language in School

open access: yes, 2010
Machine translation (MT) technology has made significant progress over the last decade and now offers the potential for Arabic sign language (ArSL) signers to access text published in Arabic. The dominant model of MT is now corpus based.
Wald, Mike   +2 more
core  

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 more
wiley   +1 more source

The properties of panels in global comics: frequency and size of 76 K panels in 1,030 comics from 144 countries. [PDF]

open access: yesLang Resour Eval
Cohn N   +23 more
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland   +4 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena   +13 more
wiley   +1 more source

SYN2005: balanced corpus of written Czech

open access: yes, 2005
Balanced corpus of contemporary written Czech sized 100 MW. It was created as a representation of written language from 2000–2004 and thus it contains a wide range of text types and genres (fiction, professional literature, newspapers etc.) in balanced ...
Jelínek, Tomáš   +13 more
core  

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll   +2 more
wiley   +1 more source

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