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PubPharm (9)
1
Type I Collagen Signaling Regulates Opposing Fibrotic Pathways through α2β1 Integrin
enthalten in:
American journal of respiratory cell and molecular biology
| 2020
von
Agarwal, M.
|
Goheen, M.
|
Jia, S.
| +3
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2
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms
enthalten in:
Molecular genetics & genomic medicine
| 2019
von
Cassini, T.
|
Duncan, L.
|
Rives, L.
| +107
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3
Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome : are we failing to diagnose Aicardi-Goutières syndrome-2?
enthalten in:
Developmental medicine and child neurology
| 2017
von
Svingen, L.
|
Goheen, M.
|
Godfrey, R.
| +5
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4
MARRVEL : Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
enthalten in:
American journal of human genetics
| 2017
von
Wang, J.
|
Al-Ouran, R.
|
Hu, Y.
| +111
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5
A window into living with an undiagnosed disease : illness narratives from the Undiagnosed Diseases Network
enthalten in:
Orphanet journal of rare diseases
| 2017
von
Spillmann, R.
|
McConkie-Rosell, A.
|
Pena, L.
| +108
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6
The Undiagnosed Diseases Network : Accelerating Discovery about Health and Disease
enthalten in:
American journal of human genetics
| 2017
von
Ramoni, R.
|
Mulvihill, J.
|
Adams, D.
| +111
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7
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
enthalten in:
American journal of human genetics
| 2017
von
Chao, H.
|
Davids, M.
|
Burke, E.
| +119
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8
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
enthalten in:
American journal of human genetics
| 2017
von
Chao, H.
|
Davids, M.
|
Burke, E.
| +98
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9
Late diagnosis and atypical brain imaging of Aicardi–Goutières syndrome: are we failing to diagnose Aicardi–Goutières syndrome‐2?
enthalten in:
Developmental medicine & child neurology
| 2017
von
Svingen, L.
|
Goheen, M.
|
Godfrey, R.
| +5
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1
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