Results
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2621.
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2622.
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The effect of premature termination codon mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids: a basis for read-through therapies in cystic fibrosis. [electronic resource] by
- Clarke, Luka A
- Awatade, Nikhil T
- Felício, Veronica M
- Silva, Iris A
- Calucho, Maite
- Pereira, Luisa
- Azevedo, Pilar
- Cavaco, José
- Barreto, Celeste
- Bertuzzo, Carmen
- Gartner, Silvia
- Beekman, Jeffrey
- Amaral, Margarida D
Producer: 20200323
In:
Human mutation vol. 40
Availability: No items available.
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2623.
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Molecular genetic diagnosis of Tunisian Glanzmann thrombasthenia patients reveals a common nonsense mutation in the ITGA2B gene that seems to be specific for the studied population. [electronic resource] by
- Aloui, Chaker
- Chakroun, Tahar
- Granados, Viviana
- Jemni-Yacoub, Saloua
- Fagan, Jocelyne
- Khelif, Abderrahim
- Kahloul, Najoua
- Hammami, Sabeur
- Chkioua, Latifa
- Barlier, Céline
- Cognasse, Fabrice
- Laradi, Sandrine
- Garraud, Olivier
Producer: 20190419
In:
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis vol. 29
Availability: No items available.
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2624.
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2625.
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De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features. [electronic resource] by
- Lozier, Ekaterina R
- Konovalov, Fedor A
- Kanivets, Ilya V
- Pyankov, Denis V
- Koshkin, Philip A
- Baleva, Larisa S
- Sipyagina, Alla E
- Yakusheva, Elena N
- Kuchina, Anastasiya E
- Korostelev, Sergey A
Producer: 20181106
In:
Journal of human genetics vol. 63
Availability: No items available.
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2626.
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2627.
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2628.
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2629.
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2630.
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2631.
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2632.
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Mutational analysis of the WASP gene in 2 Korean families with Wiskott-Aldrich syndrome. [electronic resource] by
- Jo, Eun-Kyeong
- Futatani, Takeshi
- Kanegane, Hirokazu
- Kubota, Takeo
- Lee, Young-Ho
- Jung, Jin-A
- Song, Chang-Hwa
- Park, Jeong-Kyu
- Nonoyama, Shigeaki
- Miyawaki, Toshio
Producer: 20031029
In:
International journal of hematology vol. 78
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2633.
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2634.
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Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. [electronic resource] by
- Sako, Mayumi
- Nakanishi, Koichi
- Obana, Mina
- Yata, Nahoko
- Hoshii, Sakurako
- Takahashi, Shori
- Wada, Naohiro
- Takahashi, Yasuhiko
- Kaku, Yoshitsugu
- Satomura, Kenichi
- Ikeda, Masahiro
- Honda, Masataka
- Iijima, Kazumoto
- Yoshikawa, Norishige
Producer: 20050926
In:
Kidney international vol. 67
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2635.
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2636.
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2637.
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2638.
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Progranulin mutations in Dutch familial frontotemporal lobar degeneration. [electronic resource] by
- Bronner, Iraad F
- Rizzu, Patrizia
- Seelaar, Harro
- van Mil, Saskia E
- Anar, Burcu
- Azmani, Asma
- Donker Kaat, Laura
- Rosso, Sonia
- Heutink, Peter
- van Swieten, John C
Producer: 20070418
In:
European journal of human genetics : EJHG vol. 15
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2639.
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2640.
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Holt-Oram syndrome associated with anomalies of the feet. [electronic resource] by
- Garavelli, L
- De Brasi, D
- Verri, R
- Guareschi, E
- Cariola, F
- Melis, D
- Calcagno, G
- Salvatore, F
- Unger, S
- Sebastio, G
- Albertini, G
- Rivieri, F
- Soli, F
- Superti-Furga, A
- Gentile, M
Producer: 20080522
In:
American journal of medical genetics. Part A vol. 146A
Availability: No items available.
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