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/vufind/Search/Results?lookfor=%22Barry%2C+Brenda+J.%22&type=Person&sort=year
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PubPharm (59)
1
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
enthalten in:
bioRxiv.org
| 2024
von
Jurgens, J.
|
Barry, B.
|
Chan, W.
| +37
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2
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
enthalten in:
medRxiv : the preprint server for health sciences
| 2024
von
Jurgens, J.
|
Barry, B.
|
Chan, W.
| +38
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3
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
Lecoquierre, F.
|
Punt, A.
|
Ebstein, F.
| +28
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4
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
enthalten in:
bioRxiv.org
| 2023
von
Lee, A.
|
Ayers, L.
|
Kosicki, M.
| +22
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5
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
enthalten in:
medRxiv : the preprint server for health sciences
| 2023
von
Lee, A.
|
Ayers, L.
|
Kosicki, M.
| +22
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6
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria
enthalten in:
JAMA neurology
| 2023
von
Akula, S.
|
Chen, A.
|
Neil, J.
| +129
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7
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
enthalten in:
Nature genetics
| 2023
von
Tenney, A.
|
Di Gioia, S.
|
Webb, B.
| +55
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8
TUBB3 and KIF21A in neurodevelopment and disease
enthalten in:
Frontiers in neuroscience
| 2023
von
Puri, D.
|
Barry, B.
|
Engle, E.
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9
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder
enthalten in:
Human mutation
| 2022
von
Natera-de Benito, D.
|
Jurgens, J.
|
Yeung, A.
| +21
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10
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder
enthalten in:
Human mutation
| 2022
von
Natera‐de Benito, D.
|
Jurgens, J.
|
Yeung, A.
| +21
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Nerve Tissue Proteins
3
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3
microcephaly
2
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2
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2
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2
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2
Homeodomain Proteins
2
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2
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