E-LIB Suche - Ergebnisse für: Goudie, David

1

Expansion of the neurodevelopmental phenotype of individual..:

Paulet, Alix ; Bennett-Ness, Cavan ; Ageorges, Faustine...
European Journal of Human Genetics. , 2024

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

2

Correction: Expansion of the neurodevelopmental phenotype o..:

Paulet, Alix ; Bennett-Ness, Cavan ; Ageorges, Faustine...
European Journal of Human Genetics. , 2024

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

3

Individuals with heterozygous variants in the Wnt-signallin..:

Holt, Richard ; Goudie, David ; Verde, Alejandra Damián...
Ophthalmic Genetics. 43 (2022) 6 - p. 809-816 , 2022

Link: https://doi.org/10.1080/..

4

Opposite Modulation of RAC1 by Mutations in TRIO Is Associa..:

Barbosa, Sónia ; Greville-Heygate, Stephanie ; Bonnet, Maxime...
The American Journal of Human Genetics. 106 (2020) 3 - p. 338-355 , 2020

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

5

Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritan..:

Gerrish, Amy ; Bowns, Benjamin ; Mashayamombe-Wolfgarten, Chipo...
Journal of Clinical Medicine. 9 (2020) 11 - p. 3517 , 2020

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

6

SLC12A2 variants cause a neurodevelopmental disorder or coc..:

McNeill, Alisdair ; Iovino, Emanuela ; Mansard, Luke...
Brain. 143 (2020) 8 - p. 2380-2387 , 2020

Link: https://doi.org/10.1093/..

7

Correction: KAT6A Syndrome: genotype–phenotype correlation ..:

Kennedy, Joanna ; Goudie, David ; Blair, Edward...
Genetics in Medicine. 22 (2020) 11 - p. 1920 , 2020

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

8

Multiple Self-Healing Squamous Epithelioma (MSSE): A Digeni..:

Goudie, David
Genes. 11 (2020) 12 - p. 1410 , 2020

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

9

The phenotype of Sotos syndrome in adulthood: A review of 4..:

Foster, Alison ; Zachariou, Anna ; Loveday, Chey...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 181 (2019) 4 - p. 502-508 , 2019

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

10

KAT6A Syndrome: genotype–phenotype correlation in 76 patien..:

Kennedy, Joanna ; Goudie, David ; Blair, Edward...
Genetics in Medicine. 21 (2019) 4 - p. 850-860 , 2019

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

11

Features of multiple self‐healing squamous epithelioma and ..:

Sirisomboonwong, Korawan E. ; Martindale, Joanne ; Keefe, Martin..
American Journal of Medical Genetics Part A. 176 (2018) 12 - p. 2892-2895 , 2018

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

12

Assessing the effectiveness of NICE criteria for stratifyin..:

Littlejohn, Lucy A. ; Gibbs, Jim ; Jordan, Lee B....
European Journal of Human Genetics. 26 (2018) 4 - p. 599-603 , 2018

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

13

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 in..:

Tatton-Brown, Katrina ; Zachariou, Anna ; Loveday, Chey...
Wellcome Open Research. 3 (2018) - p. 46 , 2018

Link: https://doi.org/10.12688..

14

The phenotypic spectrum ofSCN8Aencephalopathy:

Larsen, Jan ; Carvill, Gemma L. ; Gardella, Elena...
Neurology. 84 (2015) 5 - p. 480-489 , 2015

Link: https://doi.org/10.1212/..

15

Erratum: Corrigendum: Mutations in the DNA methyltransferas..:

Childhood Overgrowth Consortium ; Tatton-Brown, Katrina ; Seal, Sheila...
Nature Genetics. 46 (2014) 6 - p. 657-657 , 2014

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