| 1 |
Detecting COVID-19-Related Fake News Using Feature Extraction
|
|
|
|
In: Front Public Health (2022)
|
|
BASE
|
|
Show details
|
|
|
| 2 |
Predictors for detecting chronic respiratory diseases in community surveys: A pilot cross-sectional survey in four South and South East Asian low- and middle-income countries
|
|
|
|
In: J Glob Health (2021)
|
|
BASE
|
|
Show details
|
|
|
| 3 |
Impact of caregiver depression on child asthma outcomes in Mexicans and Puerto Ricans
|
|
|
|
In: College of Nursing Faculty Publications (2021)
|
|
BASE
|
|
Show details
|
|
|
| 4 |
Autism and developmental disability caused by KCNQ3 gain‐of‐function variants
|
|
|
|
In: ISSN: 0364-5134 ; EISSN: 1531-8249 ; Annals of Neurology ; https://hal.archives-ouvertes.fr/hal-02151807 ; Annals of Neurology, Wiley, 2019, ⟨10.1002/ana.25522⟩ (2019)
|
|
BASE
|
|
Show details
|
|
|
| 5 |
Understanding the importance of graduate admissions criteria according to prospective graduate students
|
|
|
|
In: Department of Physics (2019)
|
|
BASE
|
|
Show details
|
|
|
| 6 |
Self-Reported Hearing Quality of Life Measures in Pediatric Cochlear Implant Recipients with Bilateral Input
|
|
|
|
In: Cochlear Implants Int (2019)
|
|
BASE
|
|
Show details
|
|
|
| 7 |
Feasibility of Text Messaging to Augment Brief Advice and Nicotine Replacement Therapy for Smoking Cessation in College Students
|
|
|
|
In: J Am Coll Health (2019)
|
|
BASE
|
|
Show details
|
|
|
| 8 |
Determination of marginalized youth to overcome and achieve in mathematics: A case study from India.
|
|
|
|
In: Global Education Review; Vol. 5 No. 3 (2018): Policies and Practices in Support of Mathematics Learning; 5-28 ; 2325-663X (2018)
|
|
BASE
|
|
Show details
|
|
|
| 9 |
Using Twitter and Network Analysis to Assess the Sophistication of Learners' Thinking In Studio Physics: An Exploratory Mixed Methods Study
|
|
|
|
In: Doctoral Dissertations (2018)
|
|
BASE
|
|
Show details
|
|
|
| 11 |
CEST: City Event Summarization using Twitter
|
|
|
|
In: Computer Science Graduate Projects and Theses (2016)
|
|
BASE
|
|
Show details
|
|
|
| 12 |
Delineating the GRIN1 phenotypic spectrum: a distinct genetic NMDA receptor encephalopathy
|
|
Lemke, Johannes R.; Geider, Kirsten; Helbig, Katherine L.; Heyne, Henrike O.; Schutz, Hannah; Hentschel, Julia; Courage, Carolina; Depienne, Christel; Nava, Caroline; Heron, Delphine; Moller, Rikke S.; Hjalgrim, Helle; Lal, Dennis; Neubauer, Bernd A.; Nurnberg, Peter; Thiele, Holger; Kurlemann, Gerhard; Arnold, Georgianne L.; Bhambhani, Vikas; Bartholdi, Deborah; Pedurupillay, Christeen Ramane J.; Misceo, Doriana; Frengen, Eirik; Stromme, Petter; Dlugos, Dennis J.; Doherty, Emily S.; Bijlsma, Emilia K.; Ruivenkamp, Claudia A.; Hoffer, Mariette J. V.; Goldstein, Amy; Rajan, Deepa S.; Narayanan, Vinodh; Ramsey, Keri; Belnap, Newell; Schrauwen, Isabelle; Richholt, Ryan; Koeleman, Bobby P. C.; Sá, Joaquim; Mendonca, Carla; de Kovel, Carolien G. F.; Weckhuysen, Sarah; Hardies, Katia; De Jonghe, Peter; De Meirleir, Linda; Milh, Mathieu; Badens, Catherine; Lebrun, Marine; Busa, Tiffany; Francannet, Christine; Piton, Amelie; Riesch, Erik; Biskup, Saskia; Vogt, Heinrich; Dorn, Thomas; Helbig, Ingo; Michaud, Jacques L.; Laube, Bodo; Syrbe, Steffen. - : Lippincott, Williams & Wilkins, 2016
|
|
Abstract:
Objective:To determine the phenotypic spectrum caused by mutations in GRIN1 encoding the NMDA receptor subunit GluN1 and to investigate their underlying functional pathophysiology.Methods:We collected molecular and clinical data from several diagnostic and research cohorts. Functional consequences of GRIN1 mutations were investigated in Xenopus laevis oocytes.Results:We identified heterozygous de novo GRIN1 mutations in 14 individuals and reviewed the phenotypes of all 9 previously reported patients. These 23 individuals presented with a distinct phenotype of profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, hyperkinetic movement disorder, oculogyric crises, cortical blindness, generalized cerebral atrophy, and epilepsy. Mutations cluster within transmembrane segments and result in loss of channel function of varying severity with a dominant-negative effect. In addition, we describe 2 homozygous GRIN1 mutations (1 missense, 1 truncation), each segregating with severe neurodevelopmental phenotypes in consanguineous families.Conclusions:De novo GRIN1 mutations are associated with severe intellectual disability with cortical visual impairment as well as oculomotor and movement disorders being discriminating phenotypic features. Loss of NMDA receptor function appears to be the underlying disease mechanism. The identification of both heterozygous and homozygous mutations blurs the borders of dominant and recessive inheritance of GRIN1-associated disorders. ; Johannes R. Lemke (32EP30_136042/1) and Peter De Jonghe (G.A.136.11.N and FWO/ESF-ECRP) received financial support within the EuroEPINOMICS-RES network (www.euroepinomics.org) within the Eurocores framework of the European Science Foundation (ESF). Saskia Biskup and Henrike Heyne received financial support from the German Federal Ministry for Education and Research (BMBF IonNeurONet: 01 GM1105A and FKZ: 01EO1501). Katia Hardies is a PhD fellow of the Institute for Science and Technology (IWT) Flanders. Ingo Helbig was supported by intramural funds of the University of Kiel, by a grant from the German Research Foundation (HE5415/3-1) within the EuroEPINOMICS framework of the European Science Foundation, and additional grants of the German Research Foundation (DFG, HE5415/5-1, HE 5415/6-1), German Ministry for Education and Research (01DH12033, MAR 10/012), and grant by the German chapter of the International League against Epilepsy (DGfE). The project also received infrastructural support through the Institute of Clinical Molecular Biology in Kiel, supported in part by DFG Cluster of Excellence "Inflammation at Interfaces" and "Future Ocean." The project was also supported by the popgen 2.0 network (P2N) through a grant from the German Ministry for Education and Research (01EY1103) and by the International Coordination Action (ICA) grant G0E8614N. Christel Depienne, Caroline Nava, and Delphine Heron received financial support for exome analyses by the Centre National de Genotypage (CNG, Evry, France).
|
|
Keyword:
Aphasia; Binding; De-novo mutations; Diseases; Disorders; Diversity; Focal epilepsy; Intellectual disability; Subunits
|
|
URL: http://hdl.handle.net/10400.1/9427
https://doi.org/10.1212/WNL.0000000000002740
|
|
BASE
|
|
Hide details
|
|
|
| 14 |
CDC Kerala 6: Validation of Language Evaluation Scale Trivandrum (0–3 y) Against Receptive Expressive Emergent Language Scale in a Developmental Evaluation Clinic Population [<Journal>]
|
|
|
|
DNB Subject Category Language
|
|
Show details
|
|
|
| 17 |
The phylogeography of Y-chromosome haplogroup H1a1a-M82 reveals the likely Indian origin of the European Romani populations ...
|
|
|
|
BASE
|
|
Show details
|
|
|
| 18 |
The Phylogeography of Y-Chromosome Haplogroup H1a1a-M82 Reveals the Likely Indian Origin of the European Romani Populations
|
|
|
|
BASE
|
|
Show details
|
|
|
| 19 |
Phylogeography of mtDNA haplogroup R7 in the Indian peninsula.
|
|
|
|
BASE
|
|
Show details
|
|
|
|
|
