Year of publication
Type of media
Type of material
Licence
Language
1–20 of 33 hits
Sort by:
Sort by:
-
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities
Wiley | 2024|Contributors: Glass, Ian, Lanza, Ian R., MacRae, Calum A., Maduro, Valerie V., Malicdan, May Christine V. -
Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome
Free accessWiley | 2023|Contributors: Glass, Ian, Lanza, Ian R., MacRae, Calum A., Maduro, Valerie V., Malicdan, May Christine V. -
Unraveling non‐participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors
Wiley | 2023|Contributors: Glass, Ian, Lanza, Ian R., MacRae, Calum A., Maduro, Valerie V., Malicdan, May Christine V. -
H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome
Wiley | 2023|Contributors: Glass, Ian, Lanza, Ian R., MacRae, Calum A., Maduro, Valerie V., Malicdan, May Christine V. -
Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease
Free accessWiley | 2022|Contributors: Glass, Ian, Lanza, Ian R., MacRae, Calum A., Maduro, Valerie V., Malicdan, May Christine V. -
Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation
Wiley | 2022|Contributors: Glass, Ian, Lanza, Ian R, MacRae, Calum A, Maduro, Valerie V, Maclidan, May Christine V. -
Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples
Wiley | 2022|Contributors: Glass, Ian, Lanza, Ian R., MacRae, Calum A., Maduro, Valerie V., Malicdan, May Christine V. -
REMOTE-SENSING-BASED DETECTION OF SOYBEAN APHID INDUCED STRESS IN SOYBEAN
Free accessEuropean Patent Office | 2021| -
REMOTE-SENSING-BASED DETECTION OF SOYBEAN APHID INDUCED STRESS IN SOYBEAN
Free accessEuropean Patent Office | 2021| -
Remote-sensing-based detection of soybean aphid induced stress in soybean
Free accessEuropean Patent Office | 2021| -
Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice
Wiley | 2021|Contributors: Glass, Ian, Lanza, Ian R., MacRae, Calum A., Maduro, Valerie V., Malicdan, May Christine V. -
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey
Free accessWiley | 2021|Contributors: Glass, Ian, Lanza, Ian R., MacRae, Calum A., Maduro, Valerie V., Malicdan, May Christine V. -
Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum
Free accessWiley | 2021|Contributors: Glass, Ian, Lanza, Ian R, MacRae, Calum A, Maduro, Valerie V, Malicdan, May Christine V. -
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature
Wiley | 2020|Contributors: Glass, Ian, Lanza, Ian R., MacRae, Calum A., Maduro, Valerie V., Malicdan, May Christine V. -
DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature
Free accessWiley | 2020|Contributors: Glass, Ian, Lanza, Ian R., MacRae, Calum A., Maduro, Valerie V., Malicdan, May Christine V.
Send my search to (beta)
Send your search query (search terms without filters) to other databases, portals and catalogues to find more interesting hits.
Dimensions:
full data search
or
title and abstract search
Dimensions is a database for abstracts and citations that links information on research funding with the resulting publications, studies and patents.
TIB AV portal
In the TIB AV-Portal, audiovisual media from science and teaching can be foundand own scientific videos can be published.
Specialised Information Service for Mobility and Transport Research (FID move)
Open Research Knowledge Graph (ORKG)
The FID move can be used to search for subject-specific literature, research data and other information from mobility and transport research.
The Open Research Knowledge Graph provides structured descriptions of research content and makes it comparable.
Common Union Catalogue (GVK)
Freely accessible part of the collaborative K10plus catalogue with materials relevant for interlibrary loan and direct delivery services.