E-LIB Suche - Ergebnisse für: Gustavsson, Peter

1

Genome sequencing is a sensitive first-line test to diagnos..:

Lindstrand, Anna ; Ek, Marlene ; Kvarnung, Malin...
Genetics in Medicine, 1098-3600, 2022, 24:11, s. 2296-2307. , 2022

Link: http://urn.kb.se/resolve..

2

Identification of putative pathogenic single nucleotide var..:

Sahlin, Ellika ; Gréen, Anna ; Gustavsson, Peter...
PLOS ONE, 2019, 14:1,. , 2019

Link: http://urn.kb.se/resolve..

3

Pathogenic copy number variants are detected in a subset of..:

Winberg, Johanna ; Gustavsson, Peter ; Sahlin, Ellika...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005659/. , 2019

Link: http://www.ncbi.nlm.nih...

4

Knowledge and attitudes regarding non-invasive prenatal tes..:

Georgsson, Susanne ; Sahlin, Ellika ; Iwarsson, Moa...
Journal of Genetic Counseling, 1059-7700, 2017, 26:3, s. 447-454. , 2017

Link: http://urn.kb.se/resolve..

5

Positive Attitudes towards Non-Invasive Prenatal Testing (N..:

Sahlin, Ellika ; Nordenskjöld, Magnus ; Gustavsson, Peter...
PLOS ONE, 2016, 11:5,. , 2016

Link: http://urn.kb.se/resolve..

6

De novo intrachromosomal gene conversion from OPN1MW to OPN..:

Buena-Atienza, Elena ; Ruether, Klaus ; Baumann, Britta...
https://research.rug.nl/en/publications/4e010bfd-2502-4eae-8fc8-800196f0f7d1. , 2016

Link: https://hdl.handle.net/1..

7

Whole genome sequencing of cytogenetically balanced chromos..:

Nilsson, Daniel ; Pettersson, Maria ; Gustavsson, Peter...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5225243/. , 2016

Link: http://www.ncbi.nlm.nih...

8

De novo intrachromosomal gene conversion from OPN1MW to OPN..:

Buena-Atienza, Elena ; Rüther, Klaus ; Baumann, Britta...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4919619/. , 2016

Link: http://www.ncbi.nlm.nih...

9

Mutation Screening and Array Comparative Genomic Hybridizat..:

Winberg, Johanna ; Gustavsson, Peter ; Papadogiannakis, Nikos...
PLOS ONE, 2014, 9:1, s. e85313-. , 2014

Link: http://urn.kb.se/resolve..

10

Is LMNB1 a Susceptibility Gene for Neural Tube Defects in H..:

Robinson, Alexis ; Partridge, Darren ; Malhas, Ashraf...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738925. , 2013

Link: http://www.ncbi.nlm.nih...

11

Folate metabolite profiling of different cell types and emb..:

Leung, Kit-Yi ; De Castro, Sandra C. P ; Cabreiro, Filipe...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3634978. , 2013

Link: http://www.ncbi.nlm.nih...

12

Integration of whole genome sequencing into a healthcare se..:

Henrik Stranneheim ; Kristina Lagerstedt-Robinson ; Måns Magnusson...
https://doi.org/10.1186/s13073-021-00855-5. , 2021

Link: https://doi.org/10.1186/..

13

Pathogenic copy number variants are detected in a subset of..:

Johanna Winberg ; Peter Gustavsson ; Ellika Sahlin...
https://doi.org/10.1002/mgg3.1084. , 2020

Link: https://doi.org/10.1002/..

14

Identification of putative pathogenic single nucleotide var..:

Ellika Sahlin ; Anna Gréen ; Peter Gustavsson...
https://doi.org/10.1371/journal.pone.0210017. , 2019

Link: https://doi.org/10.1371/..

15

From cytogenetics to cytogenomics: whole-genome sequencing ..:

Anna Lindstrand ; Jesper Eisfeldt ; Maria Pettersson...
http://link.springer.com/article/10.1186/s13073-019-0675-1. , 2019

Link: https://doi.org/10.1186/..