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Minks, Kelly
44
results:
Search for persons
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Format
Online (44)
Mediatypes
Articles (Online) (9)
OpenAccess-fulltext (35)
Languages
english (28)
french (2)
Sorted by: Relevance
Sorted by: Year
?
1
A Novel PDE8B Gene Variant Associated with Autosomal Domina..:
Chunga, Natalia
;
Minks, Kelly
;
Sell, David L.
...
Movement Disorders Clinical Practice. , 2024
Link:
https://doi.org/10.1002/..
?
2
Treatment Responsiveness in KCNT1-Related Epilepsy:
Fitzgerald, Mark P.
;
Fiannacca, Martina
;
Smith, Douglas M.
...
Neurotherapeutics. 16 (2019) 3 - p. 848-857 , 2019
Link:
https://doi.org/10.1007/..
?
3
Autosomal dominant mitochondrial membrane protein‐associate..:
Gregory, Allison
;
Lotia, Mitesh
;
Jeong, Suh Young
...
Molecular Genetics & Genomic Medicine. 7 (2019) 7 - p. , 2019
Link:
https://doi.org/10.1002/..
?
4
Expanding the neurodevelopmental phenotype ofPURAsyndrome:
Lee, Bo Hoon
;
Reijnders, Margot R. F.
;
Abubakare, Oluwatobi
...
American Journal of Medical Genetics Part A. 176 (2017) 1 - p. 56-67 , 2017
Link:
https://doi.org/10.1002/..
?
5
De novo coding variants in the AGO1 gene cause a neurodevel..:
SCHALK, Audrey
;
COUSIN, Margot A
;
DSOUZA, Nikita R
...
https://oskar-bordeaux.fr/handle/20.500.12278/184714. , 2023
Link:
https://oskar-bordeaux.f..
?
6
De novo coding variants in the AGO1 gene cause a neurodevel..:
Schalk, Audrey
;
Cousin, Margot A
;
Dsouza, Nikita R
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9241146/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
7
De novo coding variants in the AGO1 gene cause a neurodevel..:
Schalk, Audrey
;
Cousin, Margot A
;
Dsouza, Nikita R
...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2021-107751. , 2021
Link:
https://hal.science/hal-..
?
8
Expanding the genotypic and phenotypic spectrum in a divers..:
Sheppard, Sarah E
;
Campbell, Ian M
;
Harr, Margaret H
...
qt0xp4224d. , 2021
Link:
https://escholarship.org..
?
9
Expanding the genotypic and phenotypic spectrum in a divers..:
Sheppard, Sarah E
;
Campbell, Ian M
;
Harr, Margaret H
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8631250/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
10
De novo coding variants in the AGO1 gene cause a neurodevel..:
Schalk, Audrey
;
Cousin, Margot A
;
Dsouza, Nikita R
...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2021-107751. , 2021
Link:
https://hal.science/hal-..
?
11
Genotype–phenotype correlations and novel molecular insight..:
Mannucci, Ilaria
;
Dang, Nghi D. P
;
Huber, Hannes
...
https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/17734. , 2021
Link:
https://opus4.kobv.de/op..
?
12
Genotype-phenotype correlations and novel molecular insight..:
Mannucci, Ilaria
;
Dang, Nghi D P
;
Huber, Hannes
...
https://boris.unibe.ch/162634/. , 2021
Link:
https://boris.unibe.ch/1..
?
13
Genotype-phenotype correlations and novel molecular insight..:
Mannucci, Ilaria
;
Dang, Nghi D. P
;
Huber, Hannes
...
urn:issn:1756-994X. , 2021
Link:
https://hdl.handle.net/1..
?
14
Genotype–phenotype correlations and novel molecular insight..:
Mannucci, Ilaria
;
Dang, Nghi D. P
;
Huber, Hannes
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8140440/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
15
Genotype–phenotype correlations and novel molecular insight..:
Mannucci, Ilaria
;
Dang, Nghi DP
;
Huber, Hannes
...
qt3qt8w4z5. , 2021
Link:
https://escholarship.org..
1-15