Results
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1881.
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De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment. [electronic resource] by
- Hempel, Maja
- Cremer, Kirsten
- Ockeloen, Charlotte W
- Lichtenbelt, Klaske D
- Herkert, Johanna C
- Denecke, Jonas
- Haack, Tobias B
- Zink, Alexander M
- Becker, Jessica
- Wohlleber, Eva
- Johannsen, Jessika
- Alhaddad, Bader
- Pfundt, Rolph
- Fuchs, Sigrid
- Wieczorek, Dagmar
- Strom, Tim M
- van Gassen, Koen L I
- Kleefstra, Tjitske
- Kubisch, Christian
- Engels, Hartmut
- Lessel, Davor
Producer: 20151208
In:
American journal of human genetics vol. 97
Availability: No items available.
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1882.
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1883.
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1884.
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1885.
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1886.
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1887.
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1888.
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1889.
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1890.
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1891.
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1892.
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1893.
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1894.
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1895.
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1896.
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1897.
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1898.
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1899.
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A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation. [electronic resource] by
- Graziano, Claudio
- D'Elia, Angela V
- Mazzanti, Laura
- Moscano, Filomena
- Guidelli Guidi, Simonetta
- Scarano, Emanuela
- Turchetti, Daniela
- Franzoni, Emilio
- Romeo, Giovanni
- Damante, Giuseppe
- Seri, Marco
Producer: 20080116
In:
American journal of medical genetics. Part A vol. 143A
Availability: No items available.
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1900.
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