E-LIB Suche - Ergebnisse für: Lefroy, Henrietta

1

SOX11 variants cause a neurodevelopmental disorder with inf..:

Al-Jawahiri, Reem ; Foroutan, Aidin ; Kerkhof, Jennifer...
Genetics in Medicine. 24 (2022) 6 - p. 1261-1273 , 2022

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

2

Partial Loss of USP9X Function Leads to a Male Neurodevelop..:

Johnson, Brett V. ; Kumar, Raman ; Oishi, Sabrina...
Biological Psychiatry. 87 (2020) 2 - p. 100-112 , 2020

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

3

Genetic testing in Neurology:

Lefroy, Henrietta ; Harrison, Victoria ; Németh, Andrea H.
Medicine. 48 (2020) 8 - p. 545-549 , 2020

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

4

PAPSS2‐related brachyolmia: Clinical and radiological pheno..:

Bownass, Lucy ; Abbs, Stephen ; Armstrong, Ruth...
American Journal of Medical Genetics Part A. 179 (2019) 9 - p. 1884-1894 , 2019

Link: https://doi.org/10.1002/..

5

Atypical COL3A1 variants (glutamic acid to lysine) cause va..:

Ghali, Neeti ; Baker, Duncan ; Brady, Angela F....
Genetics in Medicine. 21 (2019) 9 - p. 2081-2091 , 2019

Link: https://doi.org/10.1038/..

6

1q24 deletion syndrome. Two cases and new insights into gen..:

Lefroy, Henrietta ; Fox, Olivia ; Javaid, Muhammad K..
American Journal of Medical Genetics Part A. 176 (2018) 9 - p. 2004-2008 , 2018

Link: https://doi.org/10.1002/..

7

Genetic testing in neurology:

Lefroy, Henrietta ; Harrison, Victoria ; Németh, Andrea H.
Medicine. 44 (2016) 8 - p. 508-512 , 2016

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

8

A novel technique for teaching the brachial plexus:

Lefroy, Henrietta ; Burdon-Bailey, Victoria ; Bhangu, Aneel.
The Clinical Teacher. 8 (2011) 3 - p. 196-199 , 2011

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

9

SOX11 variants cause a neurodevelopmental disorder with inf..:

Al-Jawahiri, Reem ; Foroutan, Aidin ; Kerkhof, Jennifer...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9245088/. , 2022

Link: http://www.ncbi.nlm.nih...

10

Partial Loss of USP9X Function Leads to a Male Neurodevelop..:

Johnson, Brett V ; Kumar, Raman ; Oishi, Sabrina...
qt7rc8p7tf. , 2020

Link: https://escholarship.org..

11

Partial loss of USP9X function leads to a male neurodevelop..:

Johnson, Brett V ; Kumar, Raman ; Oishi, Sabrina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925349/. , 2019

Link: http://www.ncbi.nlm.nih...

12

Estimating the effect size of the 15Q11.2 BP1–BP2 deletion ..:

Jønch, Aia Elise ; Douard, Elise ; Moreau, Clara...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817694/. , 2019

Link: http://www.ncbi.nlm.nih...

13

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion ..:

Jønch, Aia Elise ; Douard, Elise ; Moreau, Clara...
Jønch , A E , Douard , E , Moreau , C , Van Dijck , A , Passeggeri , M , Kooy , F , Puechberty , J , Campbell , C , Sanlaville , D , Lefroy , H , Richetin , S , Pain , A , Geneviève , D , Kini , U , Le Caignec , C , Lespinasse , J , Skytte , A B , Isidor , B , Zweier , C , Caberg , J H , Delrue , M A , Møller , R S , Bojesen , A , Hjalgrim , H , Brasch-Andersen , C , Lemyre , E , Ousager , L B & Jacquemont , S 2019 , ' Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms : recommendations for practice ' , Journal of Medical Genetics , vol. 56 , no. 10 , pp. 701-710 . https://doi.org/10.1136/jmedgenet-2018-105879. , 2019

Link: https://portal.findresea..

14

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion ..:

Jønch, Aia Elise ; Douard, Elise ; Moreau, Clara...
https://pure.au.dk/portal/en/publications/10d2b770-bc9e-434b-9242-6b9bda3270f1. , 2019

Link: https://pure.au.dk/porta..