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362.
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363.
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364.
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365.
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366.
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NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield. [electronic resource] by
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- Floor, K
- van Beek, D
- de Boer, K
- van Dijk, T
- Hilhorst-Hofstee, Y
- Hoogeboom, A J M
- van Kaam, K J
- van de Kamp, J M
- Kempers, M
- Krapels, I P C
- Kroes, H Y
- Loeys, B
- Salemink, S
- Stumpel, C T R M
- Verhoeven, V J M
- Wijnands-van den Berg, E
- Cobben, J M
- van Tintelen, J P
- Weiss, M M
- Houweling, A C
- Maugeri, A
Producer: 20171207
In:
European journal of medical genetics vol. 60
Availability: No items available.
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367.
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368.
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369.
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370.
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371.
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374.
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376.
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The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele. [electronic resource] by
- Aubart, Mélodie
- Gross, Marie-Sylvie
- Hanna, Nadine
- Zabot, Marie-Thérèse
- Sznajder, Marc
- Detaint, Delphine
- Gouya, Laurent
- Jondeau, Guillaume
- Boileau, Catherine
- Stheneur, Chantal
Producer: 20160129
In:
Human molecular genetics vol. 24
Availability: No items available.
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380.
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