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Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden? [electronic resource] by
- Müller-Felber, Wolfgang
- Vill, Katharina
- Schwartz, Oliver
- Gläser, Dieter
- Nennstiel, Uta
- Wirth, Brunhilde
- Burggraf, Siegfried
- Röschinger, Wulf
- Becker, Marc
- Durner, Jürgen
- Eggermann, Katja
- Müller, Christine
- Hannibal, Iris
- Olgemöller, Bernd
- Schara, Ulrike
- Blaschek, Astrid
- Kölbel, Heike
Producer: 20201116
In:
Journal of neuromuscular diseases vol. 7
Availability: No items available.
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307.
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Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA. [electronic resource] by
- Skordis, L A
- Dunckley, M G
- Burglen, L
- Campbell, L
- Talbot, K
- Patel, S
- Melki, J
- Davies, K E
- Dubowitz, V
- Muntoni, F
Producer: 20010705
In:
Human genetics vol. 108
Availability: No items available.
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308.
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309.
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Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy. [electronic resource] by
- Lutz, Cathleen M
- Kariya, Shingo
- Patruni, Sunita
- Osborne, Melissa A
- Liu, Don
- Henderson, Christopher E
- Li, Darrick K
- Pellizzoni, Livio
- Rojas, José
- Valenzuela, David M
- Murphy, Andrew J
- Winberg, Margaret L
- Monani, Umrao R
Producer: 20111003
In:
The Journal of clinical investigation vol. 121
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310.
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Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage. [electronic resource] by
- Parks, Michael
- Court, Samantha
- Bowns, Benjamin
- Cleary, Siobhan
- Clokie, Samuel
- Hewitt, Julie
- Williams, Denise
- Cole, Trevor
- MacDonald, Fiona
- Griffiths, Mike
- Allen, Stephanie
Producer: 20170807
In:
European journal of human genetics : EJHG vol. 25
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313.
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Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing. [electronic resource] by
- Jedličková, Ivana
- Přistoupilová, Anna
- Nosková, Lenka
- Majer, Filip
- Stránecký, Viktor
- Hartmannová, Hana
- Hodaňová, Kateřina
- Trešlová, Helena
- Hýblová, Michaela
- Solár, Peter
- Minárik, Gabriel
- Giertlová, Mária
- Kmoch, Stanislav
Producer: 20210430
In:
Molecular genetics & genomic medicine vol. 8
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315.
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3' Splice site sequences of spinal muscular atrophy related SMN2 pre-mRNA include enhancers for nearby exons. [electronic resource] by
- Cho, Sunghee
- Moon, Heegyum
- Loh, Tiing Jen
- Oh, Hyun Kyung
- Kim, Hey-Ran
- Shin, Myung-Geun
- Liao, D Joshua
- Zhou, Jianhua
- Zheng, Xuexiu
- Shen, Haihong
Producer: 20150330
In:
TheScientificWorldJournal vol. 2014
Availability: No items available.
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