E-LIB Suche - Ergebnisse für: Writzl, K

1

Preimplantation Genetic Testing within the Public Healthcar..:

Volk, M ; Writzl, K ; Veble, A...
Balkan Journal of Medical Genetics. 26 (2023) 2 - p. 5-10 , 2023

Link: https://doi.org/10.2478/..

2

P497Arrhythmic burden in patients with filamin C (FLNC) tru..:

Zupan Meznar, A ; Zizek, D ; Breskvar Kac, U D...
EP Europace. 22 (2020) Supplement_1 - p. , 2020

Link: https://doi.org/10.1093/..

3

Diagnostic exome sequencing of syndromic epilepsy patients ..:

Tumienė, B. ; Maver, A. ; Writzl, K....
Clinical Genetics. 93 (2018) 5 - p. 1057-1062 , 2018

Link: https://doi.org/10.1111/..

4

Novel oligophrenin 1 mutation in a neonate evaluated for po..:

Stražišar, B. Gnidovec ; Writzl, K.
European Journal of Paediatric Neurology. 21 (2017) - p. e79 , 2017

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

5

P187 – 2088 A case of debilitating fluctuating myotonia due..:

Gnidovec Strazisar, B ; Writzl, K ; Leonardis, L
European Journal of Paediatric Neurology. 17 (2013) - p. S105 , 2013

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

6

P15 – 1733 A novel SCN2A missense mutation in a Slovenian g..:

Gnidovec Strazisar, B ; Writzl, K ; Paro Panjan, D...
European Journal of Paediatric Neurology. 17 (2013) - p. S58 , 2013

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

7

P57 – 1731 A case of early onset epilepsy due to duplicatio..:

Gnidovec Strazisar, B ; Rener Primec, Z ; Writzl, K
European Journal of Paediatric Neurology. 17 (2013) - p. S69 , 2013

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

8

Preliminary analysis of AZFb region duplication by quantita..:

Writzl, K. ; Zorn, B. ; Peterlin, B.
Human Reproduction. 21 (2005) 3 - p. 753-754 , 2005

Link: https://doi.org/10.1093/..

9

Correction to: Reply to Letter by Tellier et al., 'Scientif..:

Forzano, F ; Antonova, O ; Clarke, A...
Forzano , F , Antonova , O , Clarke , A , de Wert , G , Hentze , S , Jamshidi , Y , Moreau , Y , Perola , M , Prokopenko , I , Read , A , Reymond , A , Stefansdottir , V , van El , C , Genuardi , M , Genuardi , M , Peterlin , B , Oliveira , C , Writzl , K , Houge , G D , Cordier , C , Howard , H , Macek , M , Melegh , B , Mendes , A , Radojkovic , D , Rial-Sebbag , E & Ulph , F 2022 , ' Correction to: Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection' (European Journal of Human Genetics, (2022), 10.1038/s41431-022-01241-4) ' , European Journal of Human Genetics . https://doi.org/10.1038/s41431-022-01263-y. , 2022

Link: https://research.manches..

10

Correction: The use of polygenic risk scores in pre-implant..:

Forzano, F ; Antonova, O ; Clarke, A...
Forzano , F , Antonova , O , Clarke , A , de Wert , G , Hentze , S , Jamshidi , Y , Moreau , Y , Perola , M , Prokopenko , I , Read , A , Reymond , A , Stefansdottir , V , van El , C , Genuardi , M , Maurizio , G , Peterlin , B , Oliveira , C , Writzl , K , Houge , G D , Cordier , C , de Wert , G , Howard , H , Macek , M , Melegh , B , Mendes , A , Radojkovic , D , Rial-Sebbag , E , Stefánsdottir , V , Ulph , F & van El , C 2022 , ' Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice (European Journal of Human Genetics, (2022), 30, 5, (493-495), 10.1038/s41431-021-01000-x) ' , European Journal of Human Genetics . https://doi.org/10.1038/s41431-022-01067-0. , 2022

Link: https://research.manches..

11

The use of polygenic risk scores in pre-implantation geneti..:

Forzano, F ; Antonova, O ; Clarke, A...
Forzano , F , Antonova , O , Clarke , A , de Wert , G , Hentze , S , Jamshidi , Y , Moreau , Y , Perola , M , Prokopenko , I , Read , A , Reymond , A , Stefansdottir , V , van El , C , Genuardi , M , Peterlin , B , Oliveira , C , Writzl , K , Houge , G D , Cordier , C , Howard , H , Macek , M , Melegh , B , Mendes , A , Radojkovic , D , Rial-Sebbag , E , Ulph , F & Jamshidi , Y 2022 , ' The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice ' , European Journal of Human Genetics . https://doi.org/10.1038/s41431-021-01000-x. , 2022

Link: https://research.manches..

12

Mowat-Wilson syndrome : growth charts:

Ivanovski I ; Djuric O ; Broccoli S...
info:eu-repo/semantics/altIdentifier/pmid/32539836. , 2020

Link: http://hdl.handle.net/24..

13

Mowat-Wilson syndrome: growth charts:

Ivanovski I ; Djuric O ; Broccoli S...
info:eu-repo/semantics/altIdentifier/pmid/32539836. , 2020

Link: http://hdl.handle.net/11..

14

Mowat-Wilson syndrome: Growth charts:

Ivanovski I ; Djuric O ; Broccoli S...
info:eu-repo/semantics/altIdentifier/pmid/32539836. , 2020

Link: http://hdl.handle.net/11..

15

Diagnostic exome sequencing of syndromic epilepsy patients ..:

Tumienė, Birutė ; Maver, A ; Writzl, K...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.13203. , 2018

Link: http://vu.lvb.lt/VU:ELAB..