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PubPharm (1.157)
1
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Layo-Carris, D.
|
Lubin, E.
|
Sangree, A.
| +84
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2
Motor difficulties in 16p11.2 copy number variation
enthalten in:
Autism research : official journal of the International Society for Autism Research
| 2024
von
Jutla, A.
|
Harvey, L.
|
Veenstra-VanderWeele, J.
| +1
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3
A new type of blood-brain barrier aminoacidopathy underlies metabolic microcephaly associated with SLC1A4 mutations
enthalten in:
Brain : a journal of neurology
| 2024
von
Odeh, M.
|
Sajrawi, C.
|
Majcher, A.
| +10
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4
Generalizability of Polygenic Risk Scores for Breast Cancer in the Multiethnic eMERGE Study
enthalten in:
bioRxiv.org
| 2024
von
Liu, C.
|
Zeinomar, N.
|
Chung, W.
| +19
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5
Polygenic Risk Modelling for Prediction of Epithelial Ovarian Cancer Risk
enthalten in:
bioRxiv.org
| 2024
von
Dareng, E.
|
Tyrer, J.
|
Barnes, D.
| +255
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6
A scalable EHR-based approach for phenotype discovery and variant interpretation for hereditary cancer genes
enthalten in:
bioRxiv.org
| 2024
von
Zeng, C.
|
Bastarache, L.
|
Tao, R.
| +30
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7
Penetrance of breast cancer genes from the eMERGE III Network
enthalten in:
bioRxiv.org
| 2024
von
Fan, X.
|
Wynn, J.
|
Shang, N.
| +26
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8
Missense variants affecting the actin-binding domains of
PLS3
cause X-linked congenital diaphragmatic hernia and body wall defects
enthalten in:
bioRxiv.org
| 2024
von
Petit, F.
|
Longoni, M.
|
Wells, J.
| +35
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9
Environmental carcinogens disproportionally mutate genes implicated in neurodevelopmental disorders
enthalten in:
bioRxiv.org
| 2024
von
Baker, B.
|
Zhang, S.
|
Simon, J.
| +3
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10
Deep Learning for Rare Disease: A Scoping Review
enthalten in:
bioRxiv.org
| 2024
von
Lee, J.
|
Liu, C.
|
Kim, J.
| +5
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