E-LIB Suche - Ergebnisse für: Clayton-Smith, Jill

1

Variants in ZFX are associated with an X-linked neurodevelo..:

Shepherdson, James L. ; Hutchison, Katie ; Don, Dilan Wellalage...
The American Journal of Human Genetics. 111 (2024) 3 - p. 487-508 , 2024

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

2

The Role of Genetic Testing in Children Requiring Surgery f..:

Musleh, Mohammud ; Bull, Adam ; Linton, Emma...
Genes. 14 (2023) 4 - p. 791 , 2023

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

3

Expanding SPTAN1 monoallelic variant associated disorders: ..:

Morsy, Heba ; Benkirane, Mehdi ; Cali, Elisa...
Genetics in Medicine. 25 (2023) 1 - p. 76-89 , 2023

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

4

Monotherapy treatment of epilepsy in pregnancy: Congenital ..:

Khanom, Sonia ; Adab, Naghme ; Bluett-Duncan, Matthew...
Neurotoxicology and Teratology. 98 (2023) - p. 107243 , 2023

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

5

A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:

Denommé-Pichon, Anne-Sophie ; Matalonga, Leslie ; de Boer, Elke...
Genetics in Medicine. 25 (2023) 4 - p. 100018 , 2023

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

6

Null and missense mutations of ERI1 cause a recessive pheno..:

Guo, Long ; Salian, Smrithi ; Xue, Jing-yi...
The American Journal of Human Genetics. 110 (2023) 7 - p. 1068-1085 , 2023

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

7

Neurodevelopmental outcomes in children and adults with Fet..:

Bluett-Duncan, Matthew ; Astill, Denise ; Charbak, Rana...
Neurotoxicology and Teratology. 98 (2023) - p. 107201 , 2023

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

8

Clinical exome sequencing efficacy and phenotypic expansion..:

Huth, Emily A. ; Zhao, Xiaonan ; Owen, Nichole...
European Journal of Human Genetics. 31 (2023) 12 - p. 1430-1439 , 2023

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

9

HNRNPC haploinsufficiency affects alternative splicing of i..:

Niggl, Eva ; Bouman, Arjan ; Briere, Lauren C....
The American Journal of Human Genetics. 110 (2023) 8 - p. 1414-1435 , 2023

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

10

Co-designing models for the communication of genomic result..:

Costa, Alessia ; Franková, Věra ; Robert, Glenn...
Journal of Community Genetics. 13 (2022) 3 - p. 313-327 , 2022

Link: https://doi.org/10.1007/..

11

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/..

12

The inner junction protein CFAP20 functions in motile and n..:

Chrystal, Paul W. ; Lambacher, Nils J. ; Doucette, Lance P....
Nature Communications. 13 (2022) 1 - p. , 2022

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

13

Recommendations for whole genome sequencing in diagnostics ..:

Souche, Erika ; Beltran, Sergi ; Brosens, Erwin...
European Journal of Human Genetics. 30 (2022) 9 - p. 1017-1021 , 2022

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

14

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/..

15

Long-term follow-up in an adult patient with Schindler dise..:

Noman, Kinza ; Broomfield, Alexander ; Clayton-Smith, Jill..
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S89 , 2022

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