Results 51 to 60 of about 253 (229)

Syntax: Its Evolution and Its Representation in the Brain

Biolinguistics, 2010
Poeppel (2008) observes that there is no clear correspondence between units of analysis in linguistics (especially the abstract and arbitrary-looking principles of syntax) and biological units of neuroscience, concluding that current neurolinguistic ...
Ljiljana Progovac
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Argument Marking in Ditransitive Alignment Types

Linguistic Discovery, 2005
This paper discusses the patterns of case-marking/adpositional marking and indexing of ditransitive clauses in the world's languages, i.e. clauses with an Agent, a Recipient and a Theme argument. It distinguishes three major alignment types, indirective,
Martin Haspelmath
doaj   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

erg

, 2014
Citation: 'erg' in the IUPAC Compendium of Chemical Terminology, 3rd ed.; International Union of Pure and Applied Chemistry; 2006. Online version 3.0.1, 2019. 10.1351/goldbook.E02193 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
Matthew Chojnacki, Ákos Kereszturi
  +4 more sources

Notes on Agreement in Itelmen

Linguistic Discovery, 2002
Agreement in Itelmen is represented by means of both prefixes and suffixes. While the prefixes reference subjects (of both transitive and intransitive verbs), the suffixal agreement morphemes on a given verb may reference the subject, the object, or an ...
Jonathan David Bobaljik, Susi Wurmbrand
doaj   +1 more source

Debunking the I above YOU illusion

Liames, 2011
There is a long tradition in placing I above YOU in linguistics and grammar. In our Western grammatical terminology, I is the “first person”. In the universal scale of agentivity, or “universal person hierarchy”, I is placed before YOU.
Marie-Odile Junker
doaj   +1 more source

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Elliptic Fourier analysis as a tool for the taxonomic identification of isolated theropod pedal phalanges

The Anatomical Record, EarlyView.
Abstract Studies of Upper Cretaceous deposits in North America have provided invaluable insights into the continental ecosystems of this time. Theropod (Saurischia, Dinosauria) pedal phalanges are commonplace in these deposits but can be difficult to identify at a finer taxonomic resolution.
Trystan M. Warnock‐Juteau, Stephanie M. Smith, Thomas M. Cullen   +2 more
wiley   +1 more source