E-LIB Suche - Ergebnisse für: Robertson, Stephen P.

1

The hinge‐1 domain of Flna is not necessary for diverse phy..:

Wade, Emma M. ; Goodin, Elizabeth A. ; Morgan, Tim...
European Journal of Clinical Investigation. , 2024

2

Clustered de novo start-loss variants in GLUL result in a d..:

Jones, Amy G. ; Aquilino, Matilde ; Tinker, Rory J....
The American Journal of Human Genetics. 111 (2024) 4 - p. 729-741 , 2024

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

3

Aberrant connectivity of the lateralized readiness system i..:

Lu, Xueyao ; Franz, Elizabeth A ; Robertson, Stephen P.
Clinical Neurophysiology. , 2024

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

4

Genome Sequencing of Idiopathic Speech Delay:

Eising, Else ; Vino, Arianna ; Mabie, Heather L....
Human Mutation. 2024 (2024) - p. 1-14 , 2024

Link: https://doi.org/10.1155/..

5

Pathogenic FLNA variants affecting the hinge region of fila..:

Wade, Emma M. ; Morgan, Tim ; Gimenez, Gregory...
American Journal of Medical Genetics Part A. 194 (2024) 10 - p. , 2024

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

6

Menke-Hennekam syndrome; delineation of domain-specific sub..:

Haghshenas, Sadegheh ; Bout, Hidde J. ; Schijns, Josephine M....
Human Genetics and Genomics Advances. 5 (2024) 4 - p. 100337 , 2024

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

7

Metformin rescues migratory deficits of cells derived from ..:

Bressan, Cedric ; Snapyan, Marta ; Snapyan, Marina...
EMBO Molecular Medicine. 15 (2023) 10 - p. , 2023

Link: https://doi.org/10.15252..

8

The current and future state of child health and wellbeing ..:

Moton, Tahirah Materoa ; King, Paula Toko ; Dalziel, Stuart R....
Journal of the Royal Society of New Zealand. 53 (2023) 5 - p. 549-552 , 2023

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

9

Phenotypic Diversity in GNAO1 Patients: A Comprehensive Ove..:

Sáez González, Maria ; Kloosterhuis, Kes ; van de Pol, Laura...
Human Mutation. 2023 (2023) - p. 1-16 , 2023

Link: https://doi.org/10.1155/..

10

FLNA-filaminopathy skeletal phenotypes are not due to an os..:

Wade, Emma M. ; Goodin, Elizabeth A. ; Wang, Yongqiang...
Bone Reports. 18 (2023) - p. 101668 , 2023

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

11

Quantitative Phenotype Morbidity Description of SATB2-Assoc..:

Zarate, Yuri A. ; Bosanko, Katherine ; Kannan, Amrit...
Human Mutation. 2023 (2023) - p. 1-9 , 2023

Link: https://doi.org/10.1155/..

12

The Spectra of Disease-Causing Mutations in the Ferroportin..:

Uguen, Kevin ; Ka, Chandran ; Collod-Béroud, Gwenaelle...
Human Mutation. 2023 (2023) - p. 1-22 , 2023

Link: https://doi.org/10.1155/..

13

Nosology of genetic skeletal disorders: 2023 revision:

Unger, Sheila ; Ferreira, Carlos R. ; Mortier, Geert R....
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1164-1209 , 2023

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

14

Mitochondrial disease in New Zealand: a nationwide prevalen..:

Missen, Sarah ; Wilson, Callum ; Potter, Howard...
Internal Medicine Journal. 54 (2023) 3 - p. 388-397 , 2023

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

15

Correction: Clinical findings and a DNA methylation signatu..:

Wang, Jiyong ; Foroutan, Aidin ; Richardson, Ellen...
European Journal of Human Genetics. , 2023

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