Bald neuer Katalog: sichern Sie sich schon vorab Ihre persönlichen Merklisten im Nutzerkonto: Anleitung.

Volltext-Artikel, E-Books und Literaturhinweise aus dem EBSCO Discovery Service

"Artikel & mehr" berücksichtigt nur einen Teil der für die Bibliothek der Frankfurt UAS verfügbaren Datenbanken. Zur Übersicht in DBIS

Ergebnis verändern

einschränken: Volltextzugriff; Academic (peer-reviewed) journals
erweitern: Auch Volltexte der Artikel durchsuchen; Verwandte Themen suchen

Publikationstyp

Thema

erschienen in

Verlag

Geographic terms

Sprache

Datenbank

Erscheinungsjahr

Von:

Bis:

Treffer 1 - 25 von 596, Suchdauer: 0.68s

12 3 4 5 6 7 8 9 10 11 weiter »

1
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease

von Howell, KB ; White, SM ; McTague, A ; et al.
- View full text via BASE
Merkliste

2
Equity and timeliness as factors in the effectiveness of an ethical prenatal sequencing service: reflections from parents and professionals

von Peter, M ; Hill, M ; Fisher, J ; et al.
- View full text via BASE
Merkliste

3
Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed-methods study exploring participant experiences of receiving secondary findings from genomic sequencing

von Stafford-Smith B ; Daniel M ; Peter M ; et al.

Genetics in Medicine, December 2025
- View full text via BASE
Merkliste

4
“I’m quite proud of how we’ve handled it”: health professionals’ experiences of returning additional findings from the 100,000 genomes project

von Stafford-Smith B ; Gurasashvili J ; Peter M ; et al.

European Journal of Human Genetics, 2024
- View full text via BASE
Merkliste

5
Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences

von Peter M ; Mellis R ; McInnes-Dean H ; et al.

Frontiers in Genetics, 2024
- View full text via BASE
Merkliste

6
Implementation of a national rapid prenatal exome sequencing service in England: evaluation of service outcomes and factors associated with regional variation

von Ramakrishnan, R ; Mallinson, C ; Hardy, S ; et al.
- View full text via BASE
Merkliste

7
‘Something that helped the whole picture’: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service

von McInnes‐Dean, H ; Mellis, R ; Daniel, M ; et al.
- View full text via BASE
Merkliste

8
An exploratory open-label multicentre phase I/II trial evaluating the safety and efficacy of postnatal or prenatal and postnatal administration of allogeneic expanded fetal mesenchymal stem cells for the treatment of severe osteogenesis imperfecta in infants and fetuses: The BOOSTB4 trial protocol

von Sagar, RL ; Åström, E ; Chitty, LS ; et al.

BMJ Open , 14 (6) , Article e079767. (2024)
- View full text via BASE
Merkliste

9
‘Something that helped the whole picture’: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service

von McInnes-Dean, H ; Mellis, R ; Daniel, M ; et al.

Prenatal Diagnosis (2024) (In press).
- View full text via BASE
Merkliste

10
Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences

von Peter, M ; Mellis, R ; McInnes-Dean, H ; et al.
- View full text via BASE
Merkliste

11
Position statement from the International Society for Prenatal Diagnosis on the use of non-invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies

von Hui, L ; Ellis, K ; Mayen, D ; et al.
- View full text via BASE
Merkliste

12
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study

von D'Gama, AM ; Mulhern, S ; Sheidley, BR ; et al.
- View full text via BASE
Merkliste

13
Public and patient involvement in research to support genome services development in the UK

von Hunter, A ; Lewis, C ; Hill, M ; et al.
- View full text via BASE
Merkliste

14
Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications

von Macken, WL ; Falabella, M ; Pizzamiglio, C ; et al.

Expert Review of Molecular Diagnostics , 23 (9) pp. 797-814. (2023)

Schlagworte: Bioinformatics; large-scale rearrangements; long-read sequencing; mitochondrial DNA; primary mitochondrial diseases
- View full text via BASE
Merkliste

15
Factors that impact on women's decision-making around prenatal genomic tests: An international discrete choice survey

von Buchanan, J ; Hill, M ; Vass, CM ; et al.
- View full text via BASE
Merkliste

16
Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

von Mellis, R ; Eberhardt, RY ; Hamilton, SJ ; et al.

BJOG: An International Journal of Obstetrics & Gynaecology , 129 (1) pp. 52-61. (2022)

Schlagworte: Fetal diagnosis and therapy; Genetics; Perinatal diagnosis-invasive; Perinatal diagnosis-ultrasound.
- View full text via BASE
Merkliste

17
Fetal central nervous system anomalies: When should we offer exome sequencing?

von Baptiste, C ; Mellis, R ; Aggarwal, V ; et al.

Prenatal Diagnosis , 42 (6) pp. 736-743. (2022)
- View full text via BASE
Merkliste

18
Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?

von Mellis, R ; Tapon, D ; Shannon, N ; et al.
- View full text via BASE
Merkliste

19
Decision-making, attitudes, and understanding among patients and relatives invited to undergo genome sequencing in the 100,000 Genomes Project: A multisite survey study

von Sanderson, SC ; Lewis, C ; Hill, M ; et al.

Genetics in Medicine (2021) (In press).

Schlagworte: Attitudes; Consent; Genome sequencing; Knowledge; Rare disease
- View full text via BASE
Merkliste

20
COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE Study): prospective cohort study and systematic review

von Mone, F ; Eberhardt, RY ; Morris, RK ; et al.

Ultrasound in Obstetrics & Gynecology , 57 (1) pp. 43-51. (2021)

Schlagworte: cardiac; congenital heart disease; exome sequencing; fetus; prenatal diagnosis; next generation sequencing
- View full text via BASE
Merkliste

21
Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis.

von Mone, F ; Eberhardt, RY ; Hurles, ME ; et al.
- View full text via BASE
Merkliste

22
Living with Osteogenesis Imperfecta: A qualitative study exploring experiences and psychosocial impact from the perspective of patients, parents and professionals

von Hill, M ; Hammond, J ; Sharmin, M ; et al.

Disability and Health Journal , Article 101168. (2021) (In press).

Schlagworte: Daily life; Emotional consequences; Osteogenesis imperfecta; Qualitative interviews
- View full text via BASE
Merkliste

23
Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

von Mellis, R ; Eberhardt, RY ; Hamilton, SJ ; et al.

BJOG: An International Journal of Obstetrics & Gynaecology ; volume 129, issue 1, page 52-61 ; ISSN 1470-0328 1471-0528
- View full text via BASE
Merkliste

24
Evidence to Support the Clinical Utility of Prenatal Exome Sequencing in Evaluation of the Fetus with Congenital Anomalies ; Scientific Impact Paper No. 64 [February] 2021

von Mone, F ; McMullan, DJ ; Williams, D ; et al.

BJOG: An International Journal of Obstetrics & Gynaecology ; volume 128, issue 9 ; ISSN 1470-0328 1471-0528
- View full text via BASE
Merkliste

25
Right or wrong? Looking through the retrospectoscope to analyse predictions made a decade ago in prenatal diagnosis and fetal surgery

von Chitty, LS ; Ghidini, A ; Deprest, J ; et al.
- View full text via BASE
Merkliste

12 3 4 5 6 7 8 9 10 11 weiter »

Sie haben nicht gefunden, wonach Sie gesucht haben? Diese Services können Ihnen weiterhelfen.
Hilfe & Kontakt ǀ Fernleihe | Hilfe zur Fernleihe ǀ Literaturvorschlag| Literaturvorschlag