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topic_facet:"Hedgehog Proteins"
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PubPharm (30)
1
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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2
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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3
Introduction
enthalten in:
American journal of medical genetics. Part C, Seminars in medical genetics
| 2018
von
Kruszka, P.
|
Solomon, B.
|
Muenke, M.
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4
Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly
enthalten in:
American journal of medical genetics. Part C, Seminars in medical genetics
| 2018
von
Martinez, A.
|
Kruszka, P.
|
Muenke, M.
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5
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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6
Human germline hedgehog pathway mutations predispose to fatty liver
enthalten in:
Journal of hepatology
| 2017
von
Guillen-Sacoto, M.
|
Martinez, A.
|
Abe, Y.
| +10
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7
Expanding the phenotypic expression of Sonic Hedgehog mutations beyond holoprosencephaly
enthalten in:
The Journal of craniofacial surgery
| 2015
von
Kruszka, P.
|
Hart, R.
|
Hadley, D.
| +2
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8
Evidence for SHH as a candidate gene for encephalocele
enthalten in:
Clinical dysmorphology
| 2012
von
Bear, K.
|
Solomon, B.
|
Roessler, E.
| +4
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9
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog
enthalten in:
Journal of medical genetics
| 2012
von
Solomon, B.
|
Bear, K.
|
Wyllie, A.
| +42
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10
Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions
enthalten in:
Molecular genetics and metabolism
| 2012
von
Roessler, E.
|
Vélez, J.
|
Zhou, N.
| +1
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Thema: Hedgehog Proteins
Medienart
30
Aufsätze
23
E-Artikel
23
E-Ressourcen
7
Gedruckte Aufsätze
Zeitschriftentitel
5
American journal of medical genetics. Part C, S...
4
Human genetics
3
American journal of medical genetics. Part A
3
Human mutation
2
American journal of human genetics
2
Human molecular genetics
1
American journal of medical genetics
1
Clinical dysmorphology
1
Congenital anomalies
1
Development (Cambridge, England)
1
European journal of human genetics : EJHG
1
European journal of medical genetics
1
Journal of hepatology
1
Journal of medical genetics
1
Molecular genetics and metabolism
1
Nature genetics
1
The Journal of craniofacial surgery
Alle anzeigen ...
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Thema
Hedgehog Proteins
27
Journal Article
21
SHH protein, human
17
Research Support, N.I.H., Intramural
9
Research Support, Non-U.S. Gov't
8
Trans-Activators
7
Eye Proteins
7
Homeodomain Proteins
7
Nerve Tissue Proteins
6
Case Reports
6
Review
5
Nuclear Proteins
5
Research Support, N.I.H., Extramural
5
Research Support, U.S. Gov't, P.H.S.
5
Transcription Factors
5
ZIC2 protein, human
3
97C5T2UQ7J
3
Cell Cycle Proteins
3
Cholesterol
3
holoprosencephaly
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Erscheinungszeitraum
1
2020-
18
2010-2019
11
2000-2009
Erscheinungsjahr(e)
Von:
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Sprache
30
Englisch
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