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Steel, Dora
22
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1
Expanded phenotypic spectrum of neurodevelopmental and neur..:
Layo-Carris, Dana E.
;
Lubin, Emily E.
;
Sangree, Annabel K.
...
European Journal of Human Genetics. , 2024
Link:
https://doi.org/10.1038/..
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2
Loss-of-Function Variants in DRD1 in Infantile Parkinsonism..:
Reid, Kimberley M.
;
Steel, Dora
;
Nair, Sanjana
...
Cells. 12 (2023) 7 - p. 1046 , 2023
Link:
https://doi.org/10.3390/..
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3
Both Heterozygous and Homozygous Loss‐of‐Function JPH3 Vari..:
Steel, Dora
;
Vezyroglou, Aikaterini
;
Barwick, Katy
...
Movement Disorders. 38 (2022) 1 - p. 155-157 , 2022
Link:
https://doi.org/10.1002/..
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4
STXBP1 Stop‐Loss Mutation Associated with Complex Early Ons..:
Spaull, Robert
;
Steel, Dora
;
Barwick, Katy
...
Movement Disorders Clinical Practice. 9 (2022) 6 - p. 837-840 , 2022
Link:
https://doi.org/10.1002/..
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5
HOPS-associated neurological disorders (HOPSANDs): linking ..:
Monfrini, Edoardo
;
Zech, Michael
;
Steel, Dora
...
Brain. 144 (2021) 9 - p. 2610-2615 , 2021
Link:
https://doi.org/10.1093/..
?
6
An Update on the Phenotype, Genotype and Neurobiology of AD..:
Ferrini, Arianna
;
Steel, Dora
;
Barwick, Katy
.
Movement Disorders. 36 (2021) 5 - p. 1104-1114 , 2021
Link:
https://doi.org/10.1002/..
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7
RHOBTB2Mutations Expand the Phenotypic Spectrum of Alternat..:
Zagaglia, Sara
;
Steel, Dora
;
Krithika, S.
...
Neurology. 96 (2021) 11 - p. , 2021
Link:
https://doi.org/10.1212/..
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8
Childhood‐Onset Chorea Caused by a Recurrent De Novo DRD2 V..:
Mencacci, Niccolò E.
;
Steel, Dora
;
Magrinelli, Francesca
...
Movement Disorders. 36 (2021) 6 - p. 1472-1473 , 2021
Link:
https://doi.org/10.1002/..
?
9
A RecurrentVPS16p.Arg187* Nonsense Variant in Early‐Onset G..:
Ostrozovicova, Miriama
;
Jech, Robert
;
Steel, Dora
...
Movement Disorders. 36 (2021) 8 - p. 1984-1985 , 2021
Link:
https://doi.org/10.1002/..
?
10
Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and V..:
Steel, Dora
;
Zech, Michael
;
Zhao, Chen
...
Annals of Neurology. 88 (2020) 5 - p. 867-877 , 2020
Link:
https://doi.org/10.1002/..
?
11
AADC deficiency from infancy to adulthood: Symptoms and dev..:
Pearson, Toni S.
;
Gilbert, Laura
;
Opladen, Thomas
...
Journal of Inherited Metabolic Disease. 43 (2020) 5 - p. 1121-1130 , 2020
Link:
https://doi.org/10.1002/..
?
12
Reply to "Truncating VPS16 Mutations are Rare in Early‐Onse..:
Zech, Michael
;
Steel, Dora
;
Kurian, Manju A.
.
Annals of Neurology. 89 (2020) 3 - p. 626-626 , 2020
Link:
https://doi.org/10.1002/..
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13
KMT2B-related disorders: expansion of the phenotypic spectr..:
Cif, Laura
;
Demailly, Diane
;
Lin, Jean-Pierre
...
Brain. 143 (2020) 11 - p. 3242-3261 , 2020
Link:
https://doi.org/10.1093/..
?
14
KIF1A‐related disorders in children: A wide spectrum of cen..:
Nemani, Tarishi
;
Steel, Dora
;
Kaliakatsos, Marios
...
Journal of the Peripheral Nervous System. 25 (2020) 2 - p. 117-124 , 2020
Link:
https://doi.org/10.1111/..
?
15
Biallelic Mutations of TBC1D24 in Exercise‐Induced Paroxysm..:
Steel, Dora
;
Heim, Jennifer
;
Kruer, Michael C.
...
Movement Disorders. 35 (2020) 2 - p. 372-373 , 2020
Link:
https://doi.org/10.1002/..
1-15