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Best, Sunayna
29
results:
Search for persons
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Format
Online (29)
Mediatypes
Articles (Online) (12)
OpenAccess-fulltext (17)
Sorted by: Relevance
Sorted by: Year
?
1
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis..:
Smith, Claire E L
;
Laugel-Haushalter, Virginie
;
Hany, Ummey
...
Journal of Medical Genetics. 61 (2024) 7 - p. 689-698 , 2024
Link:
https://doi.org/10.1136/..
?
2
Molecular diagnoses in the congenital malformations caused ..:
Best, Sunayna
;
Lord, Jenny
;
Roche, Matthew
...
Acta Ophthalmologica. 100 (2022) S267 - p. , 2022
Link:
https://doi.org/10.1111/..
?
3
Uncovering the burden of hidden ciliopathies in the 100 000..:
Best, Sunayna
;
Yu, Jing
;
Lord, Jenny
...
Journal of Medical Genetics. 59 (2022) 12 - p. 1151-1164 , 2022
Link:
https://doi.org/10.1136/..
?
4
Unlocking the potential of the UK 100,000 Genomes Project—l..:
Best, Sunayna
;
Inglehearn, Chris F.
;
Watson, Christopher M.
...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 190 (2022) 1 - p. 5-8 , 2022
Link:
https://doi.org/10.1002/..
?
5
Molecular diagnoses in the congenital malformations caused ..:
Best, Sunayna
;
Lord, Jenny
;
Roche, Matthew
...
Journal of Medical Genetics. 59 (2021) 8 - p. 737-747 , 2021
Link:
https://doi.org/10.1136/..
?
6
Interpreting ciliopathy-associated missense variants of unc..:
Lange, Karen I
;
Best, Sunayna
;
Tsiropoulou, Sofia
...
Human Molecular Genetics. 31 (2021) 10 - p. 1574-1587 , 2021
Link:
https://doi.org/10.1093/..
?
7
Novel loss-of-function mutation in HERC2 is associated with..:
Elpidorou, Marilena
;
Best, Sunayna
;
Poulter, James A
...
Journal of Medical Genetics. 58 (2020) 5 - p. 334-341 , 2020
Link:
https://doi.org/10.1136/..
?
8
Rapid prenatal diagnosis using targeted exome sequencing: a..:
Chandler, Natalie
;
Best, Sunayna
;
Hayward, Jane
...
Genetics in Medicine. 20 (2018) 11 - p. 1430-1437 , 2018
Link:
https://doi.org/10.1038/..
?
9
Promises, pitfalls and practicalities of prenatal whole exo..:
Best, Sunayna
;
Wou, Karen
;
Vora, Neeta
...
Prenatal Diagnosis. 38 (2017) 1 - p. 10-19 , 2017
Link:
https://doi.org/10.1002/..
?
10
To determine the incidence of Unusual Embryo Cleavage (UEC)..:
Hickman, Cristina Fontes Lindemann
;
Perez, Marta Jansa
;
Sader, Abir
...
Reproductive BioMedicine Online. 28 (2014) - p. S4-S5 , 2014
Link:
https://doi.org/10.1016/..
?
11
The impact of fibroid characteristics on pregnancy outcome:
Lam, Sarah-Jane
;
Best, Sunayna
;
Kumar, Sailesh
American Journal of Obstetrics and Gynecology. 211 (2014) 4 - p. 395.e1-395.e5 , 2014
Link:
https://doi.org/10.1016/..
?
12
Prenatal exome sequencing analysis in fetal structural anom..:
Lord, Jenny
;
McMullan, Dominic J
;
Eberhardt, Ruth Y
...
The Lancet. 393 (2019) 10173 - p. 747-757 , 2019
Link:
https://doi.org/10.1016/..
?
13
Uncovering the burden of hidden ciliopathies in the 100 000..:
Best, Sunayna
;
Yu, Jing
;
Lord, Jenny
...
https://eprints.soton.ac.uk/468233/1/Best_et_al_2022.pdf. , 2022
Link:
https://eprints.soton.ac..
?
14
Uncovering the burden of hidden ciliopathies in the 100 000..:
Best, Sunayna
;
Yu, Jing
;
Lord, Jenny
...
https://discovery.ucl.ac.uk/id/eprint/10152041/1/jmedgenet-2022-108476.full.pdf. , 2022
Link:
https://discovery.ucl.ac..
?
15
Molecular diagnoses in the congenital malformations caused ..:
Best, Sunayna
;
Lord, Jenny
;
Roche, Matthew
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9340050/. , 2022
Link:
http://www.ncbi.nlm.nih...
1-15
