E-LIB Suche - Ergebnisse für: Bengani H

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/..