Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency

C Saunier; S I Stove; B Popp; B Gerard; M Blenski; N AhMew; C de Bie; P Goldenberg; B Isidor; B Keren; B Leheup; L Lampert; C Mignot; K Tezcan; Grazia Verheijen - Mancini; C Nava; M Wasserstein; A L Bruel; J Thevenon; A Masurel; Y Duffourd; P Kuentz; F Huet; JB Riviere; Marjon van Slegtenhorst; L Faivre; A Piton; A Reis; T Arnesen; C Thauvin-Robinet; C Zweier

doi:10.1002/humu.23001

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency

C Saunier, S I Stove, B Popp, B Gerard, M Blenski, N AhMew, C de Bie, P Goldenberg, B Isidor, B Keren, B Leheup, L Lampert, C Mignot, K Tezcan, Grazia Verheijen - Mancini, C Nava, M Wasserstein, A L Bruel, J Thevenon, A MasurelY Duffourd, P Kuentz, F Huet, JB Riviere, Marjon van Slegtenhorst, L Faivre, A Piton, A Reis, T Arnesen, C Thauvin-Robinet, C Zweier

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

70 Citations (Scopus)

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Original language	Undefined/Unknown
Pages (from-to)	755-764
Number of pages	10
Journal	Human Mutation
Volume	37
Issue number	8
DOIs	https://doi.org/10.1002/humu.23001
Publication status	Published - 2016

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EMC MGC-02-96-01

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10.1002/humu.23001

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Cite this

Saunier, C., Stove, S. I., Popp, B., Gerard, B., Blenski, M., AhMew, N., de Bie, C., Goldenberg, P., Isidor, B., Keren, B., Leheup, B., Lampert, L., Mignot, C., Tezcan, K., Verheijen - Mancini, G., Nava, C., Wasserstein, M., Bruel, A. L., Thevenon, J., ... Zweier, C. (2016). Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency. Human Mutation, 37(8), 755-764. https://doi.org/10.1002/humu.23001

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year = "2016",

doi = "10.1002/humu.23001",

language = "Undefined/Unknown",

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pages = "755--764",

journal = "Human Mutation",

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Saunier, C, Stove, SI, Popp, B, Gerard, B, Blenski, M, AhMew, N, de Bie, C, Goldenberg, P, Isidor, B, Keren, B, Leheup, B, Lampert, L, Mignot, C, Tezcan, K, Verheijen - Mancini, G, Nava, C, Wasserstein, M, Bruel, AL, Thevenon, J, Masurel, A, Duffourd, Y, Kuentz, P, Huet, F, Riviere, JB, van Slegtenhorst, M, Faivre, L, Piton, A, Reis, A, Arnesen, T, Thauvin-Robinet, C & Zweier, C 2016, 'Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency', Human Mutation, vol. 37, no. 8, pp. 755-764. https://doi.org/10.1002/humu.23001

TY - JOUR

T1 - Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency

AU - Saunier, C

AU - Stove, S I

AU - Popp, B

AU - Gerard, B

AU - Blenski, M

AU - AhMew, N

AU - de Bie, C

AU - Goldenberg, P

AU - Isidor, B

AU - Keren, B

AU - Leheup, B

AU - Lampert, L

AU - Mignot, C

AU - Tezcan, K

AU - Verheijen - Mancini, Grazia

AU - Nava, C

AU - Wasserstein, M

AU - Bruel, A L

AU - Thevenon, J

AU - Masurel, A

AU - Duffourd, Y

AU - Kuentz, P

AU - Huet, F

AU - Riviere, JB

AU - van Slegtenhorst, Marjon

AU - Faivre, L

AU - Piton, A

AU - Reis, A

AU - Arnesen, T

AU - Thauvin-Robinet, C

AU - Zweier, C

PY - 2016

Y1 - 2016

U2 - 10.1002/humu.23001

DO - 10.1002/humu.23001

M3 - Article

C2 - 27094817

SN - 1059-7794

VL - 37

SP - 755

EP - 764

JO - Human Mutation

JF - Human Mutation

IS - 8

ER -