E-LIB Suche - Ergebnisse für: Poluha, Anna

1

Diagnostic yield and clinical impact of germline sequencing..:

Tesi, Bianca ; Robinson, Kristina Lagerstedt ; Abel, Frida...
The Lancet Regional Health - Europe. 39 (2024) - p. 100881 , 2024

Link: https://doi.org/10.1016/..

2

Register-based and genetic studies of Prader-Willi syndrome..:

Maya-González, Carolina ; Wessman, Sandra ; Lagerstedt-Robinson, Kristina...
Frontiers in Medicine. 10 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

3

A retrospective two centre study of Birt-Hogg-Dubé syndrome..:

Lagerstedt-Robinson, Kristina ; Baranowska Körberg, Izabella ; Tsiaprazis, Stefanos...
PLOS ONE. 17 (2022) 2 - p. e0264056 , 2022

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

4

Surveillance recommendations for DICER1 pathogenic variant ..:

Bakhuizen, Jette J. ; Hanson, Helen ; van der Tuin, Karin...
Familial Cancer. 20 (2021) 4 - p. 337-348 , 2021

Link: https://doi.org/10.1007/..

5

Genetic testing and surveillance in infantile myofibromatos..:

Hettmer, Simone ; Dachy, Guillaume ; Seitz, Guido...
Familial Cancer. 20 (2020) 4 - p. 327-336 , 2020

Link: https://doi.org/10.1007/..

6

Molecular and clinical characterization of new patient with..:

Poluha, Anna ; Bernaciak, Joanna ; Jaszczuk, Ilona..
Molecular Cytogenetics. 10 (2017) 1 - p. , 2017

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

7

Novel 14q11.2 microduplication including the CHD8 and SUPT1..:

Smyk, Marta ; Poluha, Anna ; Jaszczuk, Ilona...
American Journal of Medical Genetics Part A. 170 (2016) 5 - p. 1325-1329 , 2016

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

8

Register-based and genetic studies of Prader-Willi syndrome..:

Maya-Gonzalez, Carolina ; Wessman, Sandra ; Lagerstedt-Robinson, Kristina...
Frontiers in Medicine, 2023, 10,. , 2023

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

9

Register-based and genetic studies of Prader-Willi syndrome..:

Maya-Gonzalez, Carolina ; Wessman, Sandra ; Lagerstedt-Robinson, Kristina...
Frontiers in Medicine, 2023, 10,. , 2023

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

10

Diagnostic Yield From a Nationwide Implementation of Precis..:

Wadensten, Elisabeth ; Wessman, Sandra ; Abel, Frida...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10581599/. , 2023

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

11

A retrospective two centre study of Birt-Hogg-Dube syndrome..:

Lagerstedt-Robinson, Kristina ; Baranowska Korberg, Izabella ; Tsiaprazis, Stefanos...
PLOS ONE, 2022, 17:2,. , 2022

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

12

Genetic testing and surveillance in infantile myofibromatos..:

Hettmer, Simone ; Dachy, Guillaume ; Seitz, Guido...
boreal:235222. , 2021

Link: http://hdl.handle.net/20..

13

Genetic testing and surveillance in infantile myofibromatos..:

Hettmer, Simone ; Dachy, Guillaume ; Seitz, Guido...
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/80789. , 2021

Link: https://opus.bibliothek...

14

Genetic testing and surveillance in infantile myofibromatos..:

Hettmer, Simone ; Dachy, Guillaume ; Seitz, Guido...
Familial Cancer, 1389-9600, 2021, 20 SI:4, s. 327-336. , 2021

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

15

Genetic testing and surveillance in infantile myofibromatos..:

Hettmer, Simone ; Dachy, Guillaume ; Seitz, Guido...
https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/23051. , 2021

Link: https://opus4.kobv.de/op..