E-LIB Suche - Ergebnisse für: Williams, Denise D.

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Prenatal next generation sequencing in the fetus with conge..:

Kilby, Mark ; Mone, Fionnuala ; Morgan, Sian.
https://pure.qub.ac.uk/en/publications/cd0e7aeb-54cb-4b40-a54e-ba0755844741. , 2023

Link: https://pure.qub.ac.uk/e..

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Improving outcomes of childhood and young adult non-Hodgkin..:

Beishuizen, Auke ; Mellgren, Karin ; Andrés, Mara...
https://www.repository.cam.ac.uk/handle/1810/343514. , 2022

Link: https://www.repository.c..

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The contribution of X-linked coding variation to severe dev..:

Martin, Hilary C ; Gardner, Eugene J ; Samocha, Kaitlin E...
doi:10.17863/CAM.63889. , 2021

Link: https://doi.org/10.17863..

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Missense variants in the N-terminal domain of the A isoform..:

Fry, Andrew E ; Marra, Christopher ; Derrick, Anna V...
Fry , A E , Marra , C , Derrick , A V , Pickrell , W O , Higgins , A T , te Water Naude , J , McClatchey , M A , Davies , S J , Metcalfe , K A , Tan , H J , Mohanraj , R , Avula , S , Williams , D , Brady , L I , Mesterman , R , Tarnopolsky , M A , Zhang , Y , Yang , Y , Wang , X , Rees , M I , Goldfarb , M & Chung , S K 2021 , ' Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy ' , American Journal of Human Genetics , vol. 108 , no. 1 , pp. 176-185 . https://doi.org/10.1016/j.ajhg.2020.10.017. , 2021

Link: https://research.manches..

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WFS1 protein expression correlates with clinical progressio..:

Hu, Kun ; Zatyka, Malgorzata ; Astuti, Dewi...
10.1136/jmedgenet-2020-107257. , 2021

Link: http://hdl.handle.net/10..

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Recurrent heterozygous PAX6 missense variants cause severe ..:

Williamson, Kathleen A ; Hall, H Nikki ; Owen, Liusaidh J...
https://discovery.ucl.ac.uk/id/eprint/10189265/1/Recurrent%20heterozygous%20PAX6%20missense%20variants%20cause%20severe%20bilateral%20microphthalmia%20via%20predictable%20effects%20on%20DNA-protein%20i.pdf. , 2020

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

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Recurrent heterozygous PAX6 missense variants cause severe ..:

Williamson, Kathleen A ; Hall, H. Nikki ; Owen, Liusaidh J...
https://research.rug.nl/en/publications/a34b8ea9-515a-4d33-8231-c21651befdca. , 2020

Link: https://hdl.handle.net/1..

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Cancers / Prognostic factors in childhood anaplastic large ..:

Mussolin, Lara ; Le Deley, Marié-Cecilé ; Carraro, Elisa...
vignette : https://repositorium.meduniwien.ac.at/titlepage/urn/urn:nbn:at:at-ubmuw:3-82008/128. , 2020

Link: https://doi.org/10.3390/..

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