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PubPharm (18)
1
Scoping review and classification of deep learning in medical genetics
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2022
von
Ledgister Hanchard, S.
|
Dwyer, M.
|
Liu, S.
| +5
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2
A hybrid semiconducting organosilica-based O2 nanoeconomizer for on-demand synergistic photothermally boosted radiotherapy
enthalten in:
Nature communications
| 2021
von
Tang, W.
|
Yang, Z.
|
He, L.
| +17
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3
Functional analysis of Sonic Hedgehog variants associated with holoprosencephaly in humans using a CRISPR/Cas9 zebrafish model
enthalten in:
Human mutation
| 2020
von
Hong, S.
|
Hu, P.
|
Jang, J.
| +5
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4
Rare hypomorphic human variation in the heptahelical domain of SMO contributes to holoprosencephaly phenotypes
enthalten in:
Human mutation
| 2020
von
Nagai-Tanima, M.
|
Hong, S.
|
Hu, P.
| +4
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5
Cohesin complex-associated holoprosencephaly
enthalten in:
Brain : a journal of neurology
| 2019
von
Kruszka, P.
|
Berger, S.
|
Casa, V.
| +32
CommentIn: Brain. 2020 Aug 1;143(8):e64. - PMID 32696056
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6
Low-level parental mosaicism affects the recurrence risk of holoprosencephaly
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2019
von
Hu, P.
|
Martinez, A.
|
Kruszka, P.
| +3
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7
Generic synthesis of small-sized hollow mesoporous organosilica nanoparticles for oxygen-independent X-ray-activated synergistic therapy
enthalten in:
Nature communications
| 2019
von
Fan, W.
|
Lu, N.
|
Shen, Z.
| +18
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8
Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling
enthalten in:
Human mutation
| 2018
von
Roessler, E.
|
Hu, P.
|
Marino, J.
| +16
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9
Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephaly
enthalten in:
Human molecular genetics
| 2018
von
Hong, S.
|
Hu, P.
|
Roessler, E.
| +2
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10
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2018
von
Weiss, K.
|
Kruszka, P.
|
Guillen Sacoto, M.
| +18
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Thema: Journal Article
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Thema: Research Support, N.I.H., Intramural
Medienart
18
Aufsätze
18
E-Artikel
18
E-Ressourcen
Zeitschriftentitel
4
Human mutation
3
Genetics in medicine : official journal of the ...
2
Human molecular genetics
2
JAMA
2
Molecular genetics and metabolism
2
Nature communications
1
American journal of medical genetics. Part A
1
Brain : a journal of neurology
1
PloS one
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Thema
Journal Article
Research Support, N.I.H., Intramural
7
Research Support, Non-U.S. Gov't
6
holoprosencephaly
5
Research Support, N.I.H., Extramural
3
Hedgehog Proteins
3
Zebrafish Proteins
2
62031-54-3
2
Fibroblast Growth Factors
2
Multicenter Study
2
Nuclear Proteins
2
Organosilicon Compounds
2
Randomized Controlled Trial
2
Transcription Factors
2
ZIC2 protein, human
2
zebrafish
1
148294-77-3
1
148997-75-5
1
3' Untranslated Regions
1
31C4KY9ESH
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Erscheinungszeitraum
4
2020-
14
2010-2019
Erscheinungsjahr(e)
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18
Englisch
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