Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.
- DOI
- 10.1038/s41431-020-00769-7
- Published
- 2021 Apr
- Container
- European journal of human genetics : EJHG
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.1038/s41431-020-00769-7,
title = {Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.},
author = {Balasubramanian M and Dingemans AJM and Albaba S and Richardson R and Yates TM and Cox H and Douzgou S and Armstrong R and Sansbury FH and Burke KB and Fry AE and Ragge N and Sharif S and Foster A and De Sandre-Giovannoli A and Elouej S and Vasudevan P and Mansour S and Wilson K and Stewart H and Heide S and Nava C and Keren B and Demirdas S and Brooks AS and Vincent M and Isidor B and Küry S and Schouten M and Leenders E and Chung WK and Haeringen AV and Scheffner T and Debray FG and White SM and Palafoll MIV and Pfundt R and Newbury-Ecob R and Kleefstra T},
year = {2021},
journal = {European journal of human genetics : EJHG},
doi = {10.1038/s41431-020-00769-7},
url = {https://doi.org/10.1038/s41431-020-00769-7}
}RIS
TY - JOUR TI - Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. AU - Balasubramanian M AU - Dingemans AJM AU - Albaba S AU - Richardson R AU - Yates TM AU - Cox H AU - Douzgou S AU - Armstrong R AU - Sansbury FH AU - Burke KB AU - Fry AE AU - Ragge N AU - Sharif S AU - Foster A AU - De Sandre-Giovannoli A AU - Elouej S AU - Vasudevan P AU - Mansour S AU - Wilson K AU - Stewart H AU - Heide S AU - Nava C AU - Keren B AU - Demirdas S AU - Brooks AS AU - Vincent M AU - Isidor B AU - Küry S AU - Schouten M AU - Leenders E AU - Chung WK AU - Haeringen AV AU - Scheffner T AU - Debray FG AU - White SM AU - Palafoll MIV AU - Pfundt R AU - Newbury-Ecob R AU - Kleefstra T PY - 2021 JO - European journal of human genetics : EJHG DO - 10.1038/s41431-020-00769-7 UR - https://doi.org/10.1038/s41431-020-00769-7 ER -
APA
M, B., AJM, D., S, A., R, R., TM, Y., H, C., S, D., R, A., FH, S., KB, B., AE, F., N, R., S, S., A, F., A, D. S., S, E., P, V., S, M., K, W., H, S., S, H., C, N., B, K., S, D., AS, B., M, V., B, I., S, K., M, S., E, L., WK, C., AV, H., T, S., FG, D., SM, W., MIV, P., R, P., R, N., & T, K. (2021). Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.. European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-020-00769-7
Source records
- pubmed · retrieved 2026-09-26T18:51:34.439Z