16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.

Allach El Khattabi L, Heide S, Caberg JH, Andrieux J, Doco Fenzy M, Vincent-Delorme C, Callier P, Chantot-Bastaraud S, Afenjar A, Boute-Benejean O, Cordier MP, Faivre L, Francannet C, Gerard M, Goldenberg A, Masurel-Paulet A, Mosca-Boidron AL, Marle N, Moncla A, Le Meur N, Mathieu-Dramard M, Plessis G, Lesca G, Rossi M, Edery P, Delahaye-Duriez A, De Pontual L, Tabet AC, Lebbar A, Suiro L, Ioos C, Natiq A, Chafai Elalaoui S, Missirian C, Receveur A, François-Fiquet C, Garnier P, Yardin C, Laroche C, Vago P, Sanlaville D, Dupont JM, Benzacken B, Pipiras E

Open source

DOI
10.1136/jmedgenet-2018-105389
Published
2020 May
Container
Journal of medical genetics
Publisher
Not recorded
Open access
unknown

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BibTeX

@article{allodium:10.1136/jmedgenet-2018-105389,
  title = {16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.},
  author = {Allach El Khattabi L and Heide S and Caberg JH and Andrieux J and Doco Fenzy M and Vincent-Delorme C and Callier P and Chantot-Bastaraud S and Afenjar A and Boute-Benejean O and Cordier MP and Faivre L and Francannet C and Gerard M and Goldenberg A and Masurel-Paulet A and Mosca-Boidron AL and Marle N and Moncla A and Le Meur N and Mathieu-Dramard M and Plessis G and Lesca G and Rossi M and Edery P and Delahaye-Duriez A and De Pontual L and Tabet AC and Lebbar A and Suiro L and Ioos C and Natiq A and Chafai Elalaoui S and Missirian C and Receveur A and François-Fiquet C and Garnier P and Yardin C and Laroche C and Vago P and Sanlaville D and Dupont JM and Benzacken B and Pipiras E},
  year = {2020},
  journal = {Journal of medical genetics},
  doi = {10.1136/jmedgenet-2018-105389},
  url = {https://doi.org/10.1136/jmedgenet-2018-105389}
}

RIS

TY  - JOUR
TI  - 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
AU  - Allach El Khattabi L
AU  - Heide S
AU  - Caberg JH
AU  - Andrieux J
AU  - Doco Fenzy M
AU  - Vincent-Delorme C
AU  - Callier P
AU  - Chantot-Bastaraud S
AU  - Afenjar A
AU  - Boute-Benejean O
AU  - Cordier MP
AU  - Faivre L
AU  - Francannet C
AU  - Gerard M
AU  - Goldenberg A
AU  - Masurel-Paulet A
AU  - Mosca-Boidron AL
AU  - Marle N
AU  - Moncla A
AU  - Le Meur N
AU  - Mathieu-Dramard M
AU  - Plessis G
AU  - Lesca G
AU  - Rossi M
AU  - Edery P
AU  - Delahaye-Duriez A
AU  - De Pontual L
AU  - Tabet AC
AU  - Lebbar A
AU  - Suiro L
AU  - Ioos C
AU  - Natiq A
AU  - Chafai Elalaoui S
AU  - Missirian C
AU  - Receveur A
AU  - François-Fiquet C
AU  - Garnier P
AU  - Yardin C
AU  - Laroche C
AU  - Vago P
AU  - Sanlaville D
AU  - Dupont JM
AU  - Benzacken B
AU  - Pipiras E
PY  - 2020
JO  - Journal of medical genetics
DO  - 10.1136/jmedgenet-2018-105389
UR  - https://doi.org/10.1136/jmedgenet-2018-105389
ER  - 

APA

L, A. E. K., S, H., JH, C., J, A., M, D. F., C, V., P, C., S, C., A, A., O, B., MP, C., L, F., C, F., M, G., A, G., A, M., AL, M., N, M., A, M., N, L. M., M, M., G, P., G, L., M, R., P, E., A, D., L, D. P., AC, T., A, L., L, S., C, I., A, N., S, C. E., C, M., A, R., C, F., P, G., C, Y., C, L., P, V., D, S., JM, D., B, B., & E, P. (2020). 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.. Journal of medical genetics. https://doi.org/10.1136/jmedgenet-2018-105389

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