HETEROZYGOUS VARIANTS IN KINASE DOMAIN OF NEK8 CAUSE AN AUTOSOMAL-DOMINANT CILIOPATHY

Laura R. Claus; Jennifer Stallworth; Richard H. Van Jaarsveld; Ray Louie; Josh Silver; Jordan Lerner-Ellis; Chantal Morel; Chloe Mighton; Alban Ziegler; Stefan Barakat; Karin Dahan; Nathalie Demoulin; Eric Goffin; Martin J. Larsen; Jens Michael Hertz; Marc Lilien; Eric Olinger; John A. Sayer; Curtis Rogers; Karen J. Duran; Edith Dj Peters; Gijs Van Haaften; Richard Steet; Albertien M. Van Eerde

HETEROZYGOUS VARIANTS IN KINASE DOMAIN OF NEK8 CAUSE AN AUTOSOMAL-DOMINANT CILIOPATHY

Laura R. Claus, Jennifer Stallworth, Richard H. Van Jaarsveld, Ray Louie, Josh Silver, Jordan Lerner-Ellis, Chantal Morel, Chloe Mighton, Alban Ziegler, Stefan Barakat, Karin Dahan, Nathalie Demoulin, Eric Goffin, Martin J. Larsen, Jens Michael Hertz, Marc Lilien, Eric Olinger, John A. Sayer, Curtis Rogers, Karen J. DuranEdith Dj Peters, Gijs Van Haaften, Richard Steet, Albertien M. Van Eerde

KI, OUH, Forskningsenhed for Human Genetik (Odense)

Publikation: Bidrag til tidsskrift › Konferenceabstrakt i tidsskrift › Forskning › peer review

Originalsprog	Engelsk
Artikelnummer	OP-36
Tidsskrift	Pediatric Nephrology
Vol/bind	36
Udgave nummer	10
Sider (fra-til)	3299-3300
ISSN	0931-041X
Status	Udgivet - 1. okt. 2021
Begivenhed	53rd ESPN Annual Meeting: Hybrid meeting - Amsterdam, Holland Varighed: 16. sep. 2021 → 19. sep. 2021

Konference

Konference	53rd ESPN Annual Meeting
Land/Område	Holland
By	Amsterdam
Periode	16/09/2021 → 19/09/2021

Dokumenter og links

https://link.springer.com/article/10.1007/s00467-021-05210-9

SDU link

Tjek adgangen til materialet i Syddansk Universitetsbiblioteks søgemaskine

Citationsformater

Claus, L. R., Stallworth, J., Van Jaarsveld, R. H., Louie, R., Silver, J., Lerner-Ellis, J., Morel, C., Mighton, C., Ziegler, A., Barakat, S., Dahan, K., Demoulin, N., Goffin, E., Larsen, M. J., Hertz, J. M., Lilien, M., Olinger, E., Sayer, J. A., Rogers, C., ... Van Eerde, A. M. (2021). HETEROZYGOUS VARIANTS IN KINASE DOMAIN OF NEK8 CAUSE AN AUTOSOMAL-DOMINANT CILIOPATHY. Pediatric Nephrology, 36(10), 3299-3300. Artikel OP-36. https://link.springer.com/article/10.1007/s00467-021-05210-9

@article{5152c94350054e47be3b9531a9b5effa,

title = "HETEROZYGOUS VARIANTS IN KINASE DOMAIN OF NEK8 CAUSE AN AUTOSOMAL-DOMINANT CILIOPATHY",

author = "Claus, \{Laura R.\} and Jennifer Stallworth and \{Van Jaarsveld\}, \{Richard H.\} and Ray Louie and Josh Silver and Jordan Lerner-Ellis and Chantal Morel and Chloe Mighton and Alban Ziegler and Stefan Barakat and Karin Dahan and Nathalie Demoulin and Eric Goffin and Larsen, \{Martin J.\} and Hertz, \{Jens Michael\} and Marc Lilien and Eric Olinger and Sayer, \{John A.\} and Curtis Rogers and Duran, \{Karen J.\} and Peters, \{Edith Dj\} and \{Van Haaften\}, Gijs and Richard Steet and \{Van Eerde\}, \{Albertien M.\}",

year = "2021",

month = oct,

day = "1",

language = "English",

volume = "36",

pages = "3299--3300",

journal = "Pediatric Nephrology",

issn = "0931-041X",

publisher = "Springer Science+Business Media",

number = "10",

note = "53rd ESPN Annual Meeting ; Conference date: 16-09-2021 Through 19-09-2021",

}

Claus, LR, Stallworth, J, Van Jaarsveld, RH, Louie, R, Silver, J, Lerner-Ellis, J, Morel, C, Mighton, C, Ziegler, A, Barakat, S, Dahan, K, Demoulin, N, Goffin, E, Larsen, MJ , Hertz, JM, Lilien, M, Olinger, E, Sayer, JA, Rogers, C, Duran, KJ, Peters, ED, Van Haaften, G, Steet, R & Van Eerde, AM 2021, 'HETEROZYGOUS VARIANTS IN KINASE DOMAIN OF NEK8 CAUSE AN AUTOSOMAL-DOMINANT CILIOPATHY', Pediatric Nephrology, bind 36, nr. 10, OP-36, s. 3299-3300. <https://link.springer.com/article/10.1007/s00467-021-05210-9>

TY - ABST

T1 - HETEROZYGOUS VARIANTS IN KINASE DOMAIN OF NEK8 CAUSE AN AUTOSOMAL-DOMINANT CILIOPATHY

AU - Claus, Laura R.

AU - Stallworth, Jennifer

AU - Van Jaarsveld, Richard H.

AU - Louie, Ray

AU - Silver, Josh

AU - Lerner-Ellis, Jordan

AU - Morel, Chantal

AU - Mighton, Chloe

AU - Ziegler, Alban

AU - Barakat, Stefan

AU - Dahan, Karin

AU - Demoulin, Nathalie

AU - Goffin, Eric

AU - Larsen, Martin J.

AU - Hertz, Jens Michael

AU - Lilien, Marc

AU - Olinger, Eric

AU - Sayer, John A.

AU - Rogers, Curtis

AU - Duran, Karen J.

AU - Peters, Edith Dj

AU - Van Haaften, Gijs

AU - Steet, Richard

AU - Van Eerde, Albertien M.

PY - 2021/10/1

Y1 - 2021/10/1

M3 - Conference abstract in journal

SN - 0931-041X

VL - 36

SP - 3299

EP - 3300

JO - Pediatric Nephrology

JF - Pediatric Nephrology

IS - 10

M1 - OP-36

T2 - 53rd ESPN Annual Meeting

Y2 - 16 September 2021 through 19 September 2021

ER -