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Steel, Dora
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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