E-LIB Suche - Ergebnisse für: Cogné, B.

1

NOTCH2 related disorders: Description and review of the fet..:

Deb, W. ; Joubert, M. ; Cogné, B....
European Journal of Medical Genetics. 66 (2023) 7 - p. 104769 , 2023

Link: https://doi.org/10.1016/..

2

Okur‐Chung neurodevelopmental syndrome: Eight additional ca..:

Chiu, A.T.G. ; Pei, S.L.C. ; Mak, C.C.Y....
Clinical Genetics. 93 (2018) 4 - p. 880-890 , 2018

Link: https://doi.org/10.1111/..

3

Whole genome sequencing identifies a de novo 2.1 Mb balance..:

Vuillaume, M.-L. ; Cogné, B. ; Jeanne, M....
Clinica Chimica Acta. 485 (2018) - p. 218-223 , 2018

Link: https://doi.org/10.1016/..

4

Elucidating the clinical and molecular spectrum of SMARCC2-..:

Bosch, E ; Popp, B ; Güse, E...
https://discovery.ucl.ac.uk/id/eprint/10181019/1/1-s2.0-S1098360023009632-main.pdf. , 2023

Link: https://discovery.ucl.ac..

5

Mechanism of KMT5B haploinsufficiency in neurodevelopment i..:

Sheppard, SE ; Bryant, L ; Wickramasekara, RN...
https://openaccess.sgul.ac.uk/id/eprint/115477/1/sciadv.ade1463.pdf. , 2023

Link: https://openaccess.sgul...

6

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Q ; Motta, M ; Gautier, T...
https://discovery.ucl.ac.uk/id/eprint/10158009/1/1-s2.0-S0002929722003603-main.pdf. , 2022

Link: https://discovery.ucl.ac..

7

Genomic and phenotypic characterization of 404 individuals ..:

Kayumi, S ; Perez-Jurado, LA ; Palomares, M...
issn:1098-3600. , 2022

Link: http://hdl.handle.net/11..

8

Rare pathogenic variants in WNK3 cause X-linked intellectua..:

Küry, S ; Zhang, J ; Besnard, T...
https://discovery.ucl.ac.uk/id/eprint/10151159/2/Shozeb_Rare%20pathogenic%20variants%20in%20WNK3%20cause%20X-linked%20intellectual%20disability_AAM.pdf. , 2022

Link: https://discovery.ucl.ac..

9

Missense variants in the histone acetyltransferase complex ..:

Cogné, B ; Ehresmann, S ; Beauregard-Lacroix, E...
doi:10.1016/j.ajhg.2019.01.010. , 2021

Link: https://doi.org/10.1016/..

10

Pathogenic SPTBN1 variants cause an autosomal dominant neur..:

Cousin, M.A ; Creighton, B.A ; Breau, K.A...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41588-021-00886-z. , 2021

Link: https://push-zb.helmholt..

11

TNPO2 variants associate with human developmental delays, n..:

Goodman, LD ; Cope, H ; Nil, Z...
https://discovery.ucl.ac.uk/id/eprint/10153680/1/Steel_Goodman_TNPO2_Main_Revised.pdf. , 2021

Link: https://discovery.ucl.ac..

12

Histone H3.3 beyond cancer: Germline mutations in Histone 3..:

Bryant, L ; Li, D ; Cox, S.G...
info:eu-repo/semantics/altIdentifier/doi/10.1126/sciadv.abc9207. , 2020

Link: https://push-zb.helmholt..

13

Clinical and molecular description of 19 patients with GATA..:

Vera, G ; Sorlin, A ; Delplancq, G...
https://discovery.ucl.ac.uk/id/eprint/10146514/1/1-s2.0-S1769721220305073-am.pdf. , 2020

Link: https://discovery.ucl.ac..

14

Histone H3.3 beyond cancer: Germline mutations in Histone 3..:

Bryant L ; Li D ; Cox S. G...
info:eu-repo/semantics/altIdentifier/pmid/33268356. , 2020

Link: http://hdl.handle.net/23..

15

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-D..:

Cogne B ; Latypova X ; Senaratne L. D. S...
info:eu-repo/semantics/altIdentifier/wos/WOS:000539109000015. , 2020

Link: http://hdl.handle.net/24..