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PubPharm (31)
1
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism
enthalten in:
Annals of clinical and translational neurology
| 2024
von
Dohrn, M.
|
Bademci, G.
|
Rebelo, A.
| +110
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2
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease
enthalten in:
medRxiv : the preprint server for health sciences
| 2024
von
Jensen, T.
|
Ni, B.
|
Reuter, C.
| +15
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3
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease
enthalten in:
bioRxiv.org
| 2024
von
Jensen, T.
|
Ni, B.
|
Reuter, C.
| +14
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4
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Ezell, K.
|
Tinker, R.
|
Furuta, Y.
| +110
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5
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy
enthalten in:
Annals of clinical and translational neurology
| 2024
von
Donkervoort, S.
|
Mohassel, P.
|
O'Leary, M.
| +121
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6
De novo variants in DENND5B cause a neurodevelopmental disorder
enthalten in:
American journal of human genetics
| 2024
von
Scala, M.
|
Tomati, V.
|
Ferla, M.
| +134
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7
Exome and genome sequencing in a heterogeneous population of patients with rare disease : Identifying predictors of a diagnosis
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
Pucel, J.
|
Briere, L.
|
Reuter, C.
| +103
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8
Genetic architecture of cardiac dynamic flow volumes
enthalten in:
Nature genetics
| 2024
von
Gomes, B.
|
Singh, A.
|
O'Sullivan, J.
| +13
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9
Transcriptional responses to priority effects in nectar yeast
enthalten in:
bioRxiv.org
| 2024
von
Chappell, C.
|
Goddard, P.
|
Golden, L.
| +6
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10
LUSTR : a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants
enthalten in:
BMC genomics
| 2024
von
Lu, J.
|
Toro, C.
|
Adams, D.
| +107
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Research Support, N.I.H., Extramural
8
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4
570
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Transcription Factors
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asthma
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developmental delay
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intellectual disability
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1
11003-00-2
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148971-36-2
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66H7ZZK23N
1
ACTN2 protein, human
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Erscheinungszeitraum
29
2020-
2
2010-2019
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