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/vufind/Search/Results?lookfor=%22Shillington%2C+Amelle%22&type=Person&sort=year
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PubPharm (23)
1
Neurodevelopmental Disorders Including Autism Spectrum Disorder and Intellectual Disability as a Risk Factor for Delayed Diagnosis of Catatonia
enthalten in:
Journal of developmental and behavioral pediatrics : JDBP
| 2024
von
Zappia, K.
|
Shillington, A.
|
Fosdick, C.
| +3
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2
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Sewani, S.
|
Azamian, M.
|
Mendelsohn, B.
| +20
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3
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2024
von
Sewani, S.
|
Azamian, M.
|
Mendelsohn, B.
| +20
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4
Non-canonical C-terminal variant of MeCP2 R344W exhibits enhanced degradation rate
enthalten in:
IBRO neuroscience reports
| 2023
von
Chai, Y.
|
Lee, S.
|
Shillington, A.
| +11
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5
Genetic syndromes are prevalent in patients with comorbid neurodevelopmental disorders and catatonia
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Shillington, A.
|
Zappia, K.
|
White, L.
| +4
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6
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2023
von
Bosch, E.
|
Popp, B.
|
Güse, E.
| +69
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7
Novel Pathogenic DNAH5 Variants in Primary Ciliary Dyskinesia : Association with Visceral Heterotaxia and Neonatal Cholestasis
enthalten in:
Journal of pediatric genetics
| 2023
von
Lin, H.
|
Gupta, A.
|
Bove, K.
| +4
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8
A novel RYR1 variant in an infant with a unique fetal presentation of central core disease
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Baker, E.
|
Al Gharaibeh, F.
|
Bove, K.
| +4
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9
Elucidating the clinical and molecular spectrum of
SMARCC2
-associated NDD in a cohort of 65 affected individuals
enthalten in:
bioRxiv.org
| 2023
von
Bosch, E.
|
Popp, B.
|
Güse, E.
| +69
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10
A novel RYR1 variant in an infant with a unique fetal presentation of central core disease
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2023
von
Baker, E.
|
Al Gharaibeh, F.
|
Bove, K.
| +4
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Zeitschriftentitel
3
American Journal of Medical Genetics Part C: Se...
3
American journal of medical genetics. Part A
2
Genetics in medicine : official journal of the ...
2
Molecular genetics & genomic medicine
1
Clinical Genetics
1
Clinical genetics
1
Epilepsy & behavior : E&B
1
Frontiers in genetics
1
IBRO neuroscience reports
1
Journal of autism and developmental disorders
1
Journal of developmental and behavioral pediatr...
1
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1
Journal of pediatric genetics
1
Molecular Genetics & Genomic Medicine
1
Neurology. Genetics
1
Neuron
1
bioRxiv.org
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Thema
15
Journal Article
6
Research Support, Non-U.S. Gov't
3
Case Reports
3
Research Support, N.I.H., Extramural
3
autism spectrum disorder
3
intellectual disability
2
DNA-Binding Proteins
2
Ryanodine Receptor Calcium Release Channel
2
Transcription Factors
2
autism
1
570
1
9007-49-2
1
ACOX1 deficiency
1
ADNP
1
ADNP protein, human
1
Acyl-CoA Oxidase
1
Antipsychotic Agents
1
Autism
1
BAF
1
BAFopathy
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Erscheinungszeitraum
3
2024
8
2023
3
2022
6
2021
3
2020
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