E-LIB Suche - Ergebnisse für: Powis, Z.

1

Expansion and further delineation of the SETD5 phenotype le..:

Powis, Z. ; Farwell Hagman, K.D. ; Mroske, C....
Clinical Genetics. 93 (2018) 4 - p. 752-761 , 2018

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

2

De novo variants in KLF7 are a potential novel cause of dev..:

Powis, Z. ; Petrik, I. ; Cohen, J.S....
Clinical Genetics. 93 (2018) 5 - p. 1030-1038 , 2018

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

3

Uniparental disomy and the phenotype of mosaic trisomy 20: ..:

Powis, Z. ; Erickson, R. P.
Journal of Applied Genetics. 50 (2009) 3 - p. 293-296 , 2009

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

4

Clinical Indications for Preimplantation Genetic Diagnosis ..:

Powis, Z. ; Bhatt, S. ; Wang, J.C.
Fertility and Sterility. 84 (2005) - p. S343-S344 , 2005

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

5

Preimplantation Genetic Diagnosis (PGD) for Aneuploidy Scre..:

Powis, Z. ; Bhatt, S. ; Wang, J.C.
Fertility and Sterility. 84 (2005) - p. S343 , 2005

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

6

Genetic screening of oocyte donors:

Powis, Z. ; Peters, K.P. ; Bhatt, S.
Fertility and Sterility. 82 (2004) - p. S188 , 2004

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

7

Recurrent de novo missense variants across multiple histone..:

Tessadori, F ; Duran, K ; Knapp, K...
doi:10.1016/j.ajhg.2022.02.003. , 2022

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

8

ATP1A2- and ATP1A3-associated early profound epileptic ence..:

Vetro, A ; Nielsen, HN ; Holm, R...
issn:0006-8950. , 2021

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

9

Histone H3.3 beyond cancer: Germline mutations in Histone 3..:

Bryant, L ; Li, D ; Cox, S.G...
info:eu-repo/semantics/altIdentifier/doi/10.1126/sciadv.abc9207. , 2020

Link: https://push-zb.helmholt..

10

Histone H3.3 beyond cancer: Germline mutations in Histone 3..:

Bryant L ; Li D ; Cox S. G...
info:eu-repo/semantics/altIdentifier/pmid/33268356. , 2020

Link: http://hdl.handle.net/23..

11

De Novo Missense Variants in FBXW11 Cause Diverse Developme..:

Holt, RJ ; Young, RM ; Crespo, B...
issn:0002-9297. , 2019

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

12

Mouse screen reveals multiple new genes underlying mouse an..:

Ingham, NJ ; Pearson, SA ; Vancollie, VE...
https://discovery.ucl.ac.uk/id/eprint/10073777/1/Preite_journal.pbio.3000194.pdf. , 2019

Link: https://discovery.ucl.ac..

13

Clinical spectrum of STX1B-related epileptic disorders:

Wolking, S ; May, P ; Mei, D...
https://discovery.ucl.ac.uk/id/eprint/10069035/1/Balestrini_WNL.0000000000007089.full.pdf. , 2019

Link: https://discovery.ucl.ac..

14

Clinical spectrum of STX1B-related epileptic disorders:

Wolking, S ; May, P ; Mei, D...
doi:10.1212/wnl.0000000000007089. , 2019

Link: https://doi.org/10.1212/..

15

De Novo Missense Variants in FBXW11 Cause Diverse Developme..:

Holt, RJ ; Young, RM ; Crespo, B...
https://discovery.ucl.ac.uk/id/eprint/10080239/1/mmc3.pdf. , 2019

Link: https://discovery.ucl.ac..