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PubPharm (210)
1
Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders
enthalten in:
bioRxiv.org
| 2024
von
Sanchis-Juan, A.
|
Megy, K.
|
Stephens, J.
| +28
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2
Population screening requires robust evidence-genomics is no exception
enthalten in:
Lancet (London, England)
| 2024
von
Turnbull, C.
|
Firth, H.
|
Wilkie, A.
| +9
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3
Personal journeys to and in human genetics and dysmorphology
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Schwartz, C.
|
Aylsworth, A.
|
Allanson, J.
| +28
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4
Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability
enthalten in:
bioRxiv.org
| 2023
von
Donnelly, N.
|
Cunningham, A.
|
Bracher-Smith, M.
| +6
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5
Mapping the Constrained Coding Regions in the human genome to their corresponding proteins
enthalten in:
bioRxiv.org
| 2023
von
Hasenahuer, M.
|
Sanchis-Juan, A.
|
Laskowski, R.
| +5
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6
Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma
enthalten in:
Journal of clinical immunology
| 2023
von
Minskaia, E.
|
Maimaris, J.
|
Jenkins, P.
| +110
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7
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders
enthalten in:
American journal of human genetics
| 2023
von
Sanchis-Juan, A.
|
Megy, K.
|
Stephens, J.
| +29
Wird geladen...
8
Psychopathology in mothers of children with pathogenic Copy Number Variants
enthalten in:
Journal of medical genetics
| 2023
von
Niarchou, M.
|
Cunningham, A.
|
Chawner, S.
| +75
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9
Neurodevelopmental dimensional assessment of young children at high genomic risk of neuropsychiatric conditions
enthalten in:
JCPP advances
| 2023
von
Chawner, S.
|
Paine, A.
|
Dunn, M.
| +79
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10
Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability : a machine learning approach
enthalten in:
Molecular autism
| 2023
von
Donnelly, N.
|
Cunningham, A.
|
Salas, S.
| +7
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DNA
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intellectual disability
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