Results
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9721.
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9722.
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9723.
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Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes. [electronic resource] by
- Umair, Muhammad
- Seidel, Heide
- Ahmed, Ishtiaq
- Ullah, Asmat
- Haack, Tobias B
- Alhaddad, Bader
- Jan, Abid
- Rafique, Afzal
- Strom, Tim M
- Ahmad, Farooq
- Meitinger, Thomas
- Ahmad, Wasim
Producer: 20180802
In:
Journal of genetics vol. 96
Availability: No items available.
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9724.
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9725.
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9726.
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9727.
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9728.
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9729.
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9730.
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9731.
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9732.
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9733.
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9734.
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9735.
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9736.
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Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1. [electronic resource] by
- Zankl, Andreas
- Zabel, Bernhard
- Hilbert, Katja
- Wildhardt, Gabi
- Cuenot, Segoleine
- Xavier, Belinda
- Ha-Vinh, Russia
- Bonafé, Luisa
- Spranger, Jürgen
- Superti-Furga, Andrea
Producer: 20050318
In:
American journal of medical genetics. Part A vol. 129A
Availability: No items available.
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9737.
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9738.
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9739.
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9740.
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