Year of publication
Type of media
Type of material
Licence
Language
101–120 of 1,864 hits
Sort by:
Sort by:
-
Cost Effectiveness of Whole Exome Sequencing for Children with Developmental Delay in a Developing Country: A Study from Jordan
Thieme Verlag | 2022|Keywords: whole exome sequencing -
A novel variant in GNPNAT1 gene causing a spondylo‐epi‐metaphyseal dysplasia resembling PGM3—Desbuquois like dysplasia
Wiley | 2022|Keywords: whole exome sequencing -
UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood
Thieme Verlag | 2019|Keywords: whole exome sequencing -
Whole exome and transcript profiling of liver following aflatoxin B1 exposure in rats
Wiley | 2023|Keywords: whole exome sequencing -
A novel mutation in TARDBP segregates with amyotrophic lateral sclerosis in a large family with early onset and fast progression
Taylor & Francis Verlag | 2020|Keywords: Whole-exome-sequencing -
A novel nonsense mutation in the L1CAM gene responsible for X‐linked congenital hydrocephalus
Wiley | 2020|Keywords: whole‐exome sequencing -
Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations
Wiley | 2018|Keywords: whole exome sequencing -
Whole-Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting Growth
Thieme Verlag | 2021|Keywords: whole-exome sequencing -
A de novo mutation of SMYD1 (p.F272L) is responsible for hypertrophic cardiomyopathy in a Chinese patient
DeGruyter | 2019|Keywords: whole exome sequencing -
Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion
Wiley | 2018|Keywords: whole exome sequencing -
Further supporting evidence for the SATB2‐associated syndrome found through whole exome sequencing
Wiley | 2015|Keywords: whole exome sequencing -
Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis
Online Contents | 2017|Keywords: whole exome sequencing -
Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred
Karger Verlag | 2020|Keywords: Whole-exome sequencing -
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature
Wiley | 2018|Keywords: whole exome sequencing -
Whole-exome sequencing identified a novel mutation of AURKC in a Chinese family with macrozoospermia
Free accessOnline Contents | 2018|Keywords: Whole-exome sequencing -
A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1
Wiley | 2016|Keywords: whole exome sequencing -
ZNF133 is associated with infliximab responsiveness in patients with inflammatory bowel diseases
Wiley | 2019|Keywords: whole‐exome sequencing -
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia
Wiley | 2014|Keywords: whole exome‐sequencing -
Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K)
Taylor & Francis Verlag | 2015|Keywords: whole-exome sequencing -
Whole-Exome Sequencing Identifies Two NovelTTN Mutations in Chinese Families with Dilated Cardiomyopathy
Karger Verlag | 2016|Keywords: Whole-exome sequencing
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.