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Bengani, H
22
results:
Search for persons
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Format
Online (22)
Mediatypes
Articles (Online) (5)
OpenAccess-fulltext (17)
Sorted by: Relevance
Sorted by: Year
?
1
Disruption of SATB2 or its long-range cis-regulation by SOX..:
Rainger, J. K.
;
Bhatia, S.
;
Bengani, H.
...
Human Molecular Genetics. 23 (2013) 10 - p. 2569-2579 , 2013
Link:
https://doi.org/10.1093/..
?
2
Miller (Genee-Wiedemann) syndrome represents a clinically a..:
Rainger, J.
;
Bengani, H.
;
Campbell, L.
...
Human Molecular Genetics. 21 (2012) 18 - p. 3969-3983 , 2012
Link:
https://doi.org/10.1093/..
?
3
Monoallelic variants resulting in substitutions of MAB21L1 ..:
Hall H. N
;
Bengani H
;
Hufnagel R. B
...
volume:17. , 2022
Link:
https://hdl.handle.net/1..
?
4
Clinical and molecular consequences of disease-associated d..:
Bengani, H
;
Handley, M
;
Alvi, M
...
https://openaccess.sgul.ac.uk/id/eprint/109307/1/gim2016211.pdf. , 2017
Link:
https://openaccess.sgul...
?
5
Clinical and molecular consequences of disease-associated d..:
Bengani, H
;
Handley, M
;
Alvi, M
...
https://eprints.whiterose.ac.uk/141388/1/Clinical%20and%20molecular%20consequences%20of%20disease-associated%20de%20novo%20mutations%20in%20SATB2.pdf. , 2017
Link:
https://eprints.whiteros..
?
6
Clinical and molecular consequences of disease-associated d..:
Bengani, H
;
Handley, M
;
Alvi, M
...
doi:10.1038/gim.2016.211. , 2017
Link:
https://doi.org/10.1038/..
?
7
A restricted repertoire of De Novo Mutations in ITPR1 cause..:
McEntagart, M
;
Williamson, K.A
;
Rainger, J.K
...
https://eprints.soton.ac.uk/392037/1/ITPR1%2520Gillespie%2520Syndrome%2520AJHG%2520Report%2520Final%2520V3.docx. , 2016
Link:
https://eprints.soton.ac..
?
8
A restricted repertoire of de novo mutations in ITPR1 cause..:
McEntagart, M
;
Williamson, KA
;
Rainger, JK
...
https://discovery.ucl.ac.uk/id/eprint/1489801/1/Restricted%20repertoire%201-s2.0-S0002929716300532-main.pdf. , 2016
Link:
https://discovery.ucl.ac..
?
9
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause..:
McEntagart, M
;
Williamson, KA
;
Rainger, JK
...
https://openaccess.sgul.ac.uk/id/eprint/108688/1/1-s2.0-S0002929716300532-main.pdf. , 2016
Link:
https://openaccess.sgul...
?
10
Long-range evolutionary constraints reveal cis-regulatory i..:
Naville, M
;
Ishibashi, M
;
Ferg, M
...
info:eu-repo/semantics/altIdentifier/wos/000353704100012. , 2015
Link:
https://publikationen.bi..
?
11
Long-range evolutionary constraints reveal cis-regulatory i..:
Naville, M
;
Ishibashi, M
;
Ferg, M
...
https://discovery.ucl.ac.uk/id/eprint/1463934/2/Wilson.ncomms7904.pdf. , 2015
Link:
https://discovery.ucl.ac..
?
12
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) ..:
Ansari, M
;
Poke, G
;
Ferry, Q
...
Journal of Medical Genetics, 2014; 51(10):659-668. , 2014
Link:
http://hdl.handle.net/24..
?
13
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) ..:
Ansari, M
;
Poke, G
;
Ferry, Q
...
https://discovery.ucl.ac.uk/id/eprint/1443027/1/Genetic%20heterogeneity%20in%20Cornelia%20de%20Lange%20syndrome%20%28CdLS%29%20and%20CdLS-like%20phenotypes%20with%20observed%20and%20predicted%20levels%20of%20mosaicism.pdf. , 2014
Link:
https://discovery.ucl.ac..
?
14
Clinical and molecular consequences of disease-associated d..:
Bengani, Hemant
;
Handley, Mark
;
Alvi, Mohsan
...
Genetics in Medicine. 19 (2017) 8 - p. 900-908 , 2017
Link:
https://doi.org/10.1038/..
?
15
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause..:
McEntagart, Meriel
;
Williamson, Kathleen A.
;
Rainger, Jacqueline K.
...
The American Journal of Human Genetics. 98 (2016) 5 - p. 981-992 , 2016
Link:
https://doi.org/10.1016/..
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