1–20 of 4,577 hits
Sort by:
Sort by:
-
Androgen receptor mrna analysis from whole blood: a low‐cost strategy for detection of androgen receptor gene splicing defects
British Library Online Contents | 2018| -
The power of the mediator complex—expanding the genetic architecture and phenotypic spectrum of med12‐related disorders
British Library Online Contents | 2018| -
Identification of 4 novel mutations of androgen receptor gene in 8 chinese families with complete androgen insensitivity syndrome
British Library Online Contents | 2018| -
Clinical implication of fmr1 intermediate alleles in a spanish population
British Library Online Contents | 2018| -
Novel nalcn biallelic truncating mutations in siblings with ihprf1 syndrome
British Library Online Contents | 2018| -
Diagnostic exome sequencing in children: a survey of parental understanding, experience and psychological impact
British Library Online Contents | 2018| -
Patient actions and reactions after receiving negative results from expanded carrier screening
British Library Online Contents | 2018| -
Ndufaf3 variants that disrupt mitochondrial complex i assembly may associate with cavitating leukoencephalopathy
British Library Online Contents | 2018| -
A novel missense mutation affecting the same amino acid as the recurrent pacs1 mutation in schuurs‐hoeijmakers syndrome
British Library Online Contents | 2018| -
Genetic association of molecular traits: a help to identify causative variants in complex diseases
British Library Online Contents | 2018| -
Gene‐panel testing of breast and ovarian cancer patients identifies a recurrent rad51c duplication
British Library Online Contents | 2018| -
Prader‐willi syndrome genetic subtypes and clinical neuropsychiatric diagnoses in residential care adults
British Library Online Contents | 2018| -
Galactose‐1‐phosphate uridyltransferase deficiency: a literature review of the putative mechanisms of short and long‐term complications and allelic variants
British Library Online Contents | 2018| -
Fragile x syndrome: an overview and update of the fmr1 gene
British Library Online Contents | 2018| -
Clinical experience with a single‐nucleotide polymorphism‐based non‐invasive prenatal test for five clinically significant microdeletions
British Library Online Contents | 2018| -
Clinical genetic testing in pediatric cardiomyopathy: is bigger better?
British Library Online Contents | 2018| -
Enrichment of rare copy number variation in children with developmental language disorder
British Library Online Contents | 2018|
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.