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/vufind/Search/Results?lookfor=%22Abreu%2C+Nicolas+J%22&type=Person&sort=year
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PubPharm (21)
1
Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Garber, A.
|
Weingarten, L.
|
Abreu, N.
| +9
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2
Relapsing White Matter Disease and Subclinical Optic Neuropathy : From the National Multiple Sclerosis Society Case Conference Proceedings
enthalten in:
Neurology(R) neuroimmunology & neuroinflammation
| 2024
von
O'Neill, K.
|
Dugue, A.
|
Abreu, N.
| +15
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3
Factors Associated With Underutilization of Genetic Testing in Autism Spectrum Disorders
enthalten in:
Pediatric neurology
| 2024
von
Abreu, N.
|
Chiujdea, M.
|
Liu, S.
| +2
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4
CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing
enthalten in:
Molecular genetics and metabolism
| 2023
von
Steigerwald, C.
|
Borsuk, J.
|
Pappas, J.
| +5
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5
Pearls & Oy-sters : CSF1R-Related Leukoencephalopathy With Spinal Cord Lesions Mimicking Multiple Sclerosis
enthalten in:
Neurology
| 2023
von
Jain, A.
|
Arena, V.
|
Steigerwald, C.
| +3
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6
Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome : A Case Series and Review
enthalten in:
Brain sciences
| 2023
von
Jauregui, R.
|
Abreu, N.
|
Golan, S.
| +7
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7
Two cases of MT-ND5-related mitochondrial disorder misdiagnosed as seronegative neuromyelitis optica spectrum disorder
enthalten in:
Multiple sclerosis (Houndmills, Basingstoke, England)
| 2023
von
Wilkins, S.
|
Yu, A.
|
Steigerwald, C.
| +6
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8
Deep Brain Stimulation for the Management of AIFM1-Related Disabling Tremor : A Case Series
enthalten in:
Pediatric neurology
| 2023
von
Tunyi, J.
|
Abreu, N.
|
Tripathi, R.
| +6
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9
Barriers to Genetic Testing Faced by Pediatric Subspecialists in Autism Spectrum Disorders
enthalten in:
Advances in neurodevelopmental disorders
| 2022
von
Abreu, N.
|
Chiujdea, M.
|
Spence, S.
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10
Barriers to Genetic Testing Faced by Pediatric Subspecialists in Autism Spectrum Disorders
enthalten in:
Advances in neurodevelopmental disorders
| 2022
von
Abreu, N.
|
Chiujdea, M.
|
Spence, S.
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Advances in neurodevelopmental disorders
2
American journal of medical genetics. Part A
2
Human mutation
2
Molecular genetics and metabolism
2
Neurology
2
Pediatric neurology
1
American Journal of Medical Genetics Part C: Se...
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Journal Article
7
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3
Genetic testing
2
Autism spectrum disorder
2
Genetics
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Healthcare access
2
neurodevelopmental disorder
1
AIFM1
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AIFM1 protein, human
1
AMP Deaminase
1
AMPD2
1
AMPD2 protein, human
1
AU0V1LM3JT
1
Aminopeptidases
1
Apoptosis Inducing Factor
1
Aquaporin 4
1
Autism
1
Autoantibodies
1
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Brain magnetic resonance imaging
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2020
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