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Phenotype [MeSH]
[x]
Sacherschließung
Humans [MeSH]
(3)
Research
(2)
Genetic Testing [MeSH]
(2)
Young Adult [MeSH]
(1)
Whole Exome Sequencing [MeSH]
(1)
Variants of uncertain significance
(1)
Sudden cardiac death
(1)
Spinocerebellar ataxia
(1)
Spinocerebellar Degenerations/genetics [MeSH]
(1)
Publikationstyp
Artikel
(3)
Medium
Erscheinungsjahr
2024
(2)
2020
(1)
Institution
3 Treffer
Kurzansicht
E-Jahr
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Typ
Operations
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population
2024 .
Mahdieh, Nejat
|
Heidari, Morteza
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Rezaei, Zahra
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Tavasoli, Ali Reza
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Hosseinpour, Sareh
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Rasulinejad, Maryam
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Dehnavi, Ali Zare
|
Ghahvechi Akbari, Masoud
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Badv, Reza Shervin
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Vafaei, Elahe
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Mohebbi, Ali
|
Mohammadi, Pouria
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Hosseiny, Seyyed Mohammad Mahdi
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Azizimalamiri, Reza
|
Nikkhah, Ali
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Pourbakhtyaran, Elham
|
Rohani, Mohammad
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Khanbanha, Narges
|
Nikbakht, Sedigheh
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Movahedinia, Mojtaba
|
Karimi, Parviz
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Ghabeli, Homa
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Hosseini, Seyed Ahmad
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Rashidi, Fatemeh Sadat
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Garshasbi, Masoud
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Kashani, Morteza Rezvani
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Ghiasvand, Noor M.
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Zuchner, Stephan
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Synofzik, Matthis
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Ashrafi, Mahmoud Reza
2024
http://purl.org/ontology/bibo/Article
'Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders'
2024 .
Martin, Sarah
|
Jenewein, Tina
|
Geisen, Christof
|
Scheiper-Welling, Stefanie
|
Kauferstein, Silke
2024
http://purl.org/ontology/bibo/Article
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS
2020 .
Braunisch, Matthias Christoph
|
Riedhammer, Korbinian Maria
|
Herr, Pierre-Maurice
|
Draut, Sarah
|
Günthner, Roman
|
Wagner, Matias
|
Weidenbusch, Marc
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Lungu, Adrian
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Alhaddad, Bader
|
Renders, Lutz
|
Strom, Tim M.
|
Heemann, Uwe
|
Meitinger, Thomas
|
Schmaderer, Christoph
|
Hoefele, Julia
2020
http://purl.org/ontology/bibo/Article