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PubPharm (261)
1
Attainment and loss of early social-communication skills across neurodevelopmental conditions in the Norwegian Mother, Father and Child Cohort Study
enthalten in:
Journal of child psychology and psychiatry, and allied disciplines
| 2024
von
Havdahl, A.
|
Farmer, C.
|
Surén, P.
| +8
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2
Milestone Development in Genetic Conditions from SFARI Registries
enthalten in:
bioRxiv.org
| 2024
von
Wickstrom, J.
|
Farmer, C.
|
Snyder, L.
| +4
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3
Large deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome
enthalten in:
bioRxiv.org
| 2024
von
Breen, M.
|
Fan, X.
|
Levy, T.
| +12
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4
Deep Phenotypic Analysis of Psychiatric Features in Genetically Defined Cohorts: Application to XYY Syndrome
enthalten in:
bioRxiv.org
| 2024
von
Raznahan, A.
|
Rau, S.
|
Schaffer, L.
| +10
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5
GM1 Gangliosidosis Type II : Results of a 10-Year Prospective Study
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
D'Souza, P.
|
Farmer, C.
|
Johnston, J.
| +26
UpdateOf: medRxiv. 2024 Jan 04;:. - PMID 38313286
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6
Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan-McDermid syndrome
enthalten in:
Clinical genetics
| 2024
von
Mitz, A.
|
Boccuto, L.
|
Thurm, A.
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7
Differential Diagnosis of Autism and Other Neurodevelopmental Disorders
enthalten in:
Pediatric clinics of North America
| 2024
von
Olson, L.
|
Bishop, S.
|
Thurm, A.
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8
Differences in Sleep EEG Coherence and Spindle Metrics in Toddlers With and Without Language Delay : A Prospective Observational Study
enthalten in:
Research square
| 2024
von
Hong, X.
|
Farmer, C.
|
Kozhemiako, N.
| +5
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9
Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Abdennadher, M.
|
Inati, S.
|
Rahhal, S.
| +7
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10
Intellectual disability and autism in propionic acidemia : a biomarker-behavioral investigation implicating dysregulated mitochondrial biology
enthalten in:
Molecular psychiatry
| 2024
von
Shchelochkov, O.
|
Farmer, C.
|
Chlebowski, C.
| +9
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Journal of neurodevelopmental disorders
11
American journal of medical genetics. Part A
10
bioRxiv.org
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Journal of autism and developmental disorders
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Journal of child psychology and psychiatry, and...
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American Journal of Medical Genetics Part C: Se...
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Autism research : official journal of the Inter...
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Archives of pediatrics & adolescent medicine
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Thema
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Research Support, N.I.H., Intramural
52
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27
Autism
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autism spectrum disorder
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Phelan-McDermid syndrome
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intellectual disability
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SHANK3
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22q13 deletion
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