Results
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2941.
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2942.
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2944.
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2946.
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2948.
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2951.
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2952.
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2953.
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2954.
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CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations. [electronic resource] by
- Mann, Nina
- Kause, Franziska
- Henze, Erik K
- Gharpure, Anant
- Shril, Shirlee
- Connaughton, Dervla M
- Nakayama, Makiko
- Klämbt, Verena
- Majmundar, Amar J
- Wu, Chen-Han W
- Kolvenbach, Caroline M
- Dai, Rufeng
- Chen, Jing
- van der Ven, Amelie T
- Ityel, Hadas
- Tooley, Madeleine J
- Kari, Jameela A
- Bownass, Lucy
- El Desoky, Sherif
- De Franco, Elisa
- Shalaby, Mohamed
- Tasic, Velibor
- Bauer, Stuart B
- Lee, Richard S
- Beckel, Jonathan M
- Yu, Weiqun
- Mane, Shrikant M
- Lifton, Richard P
- Reutter, Heiko
- Ellard, Sian
- Hibbs, Ryan E
- Kawate, Toshimitsu
- Hildebrandt, Friedhelm
Producer: 20200402
In:
American journal of human genetics vol. 105
Availability: No items available.
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2955.
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2956.
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Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations. [electronic resource] by
- Hughes, Joel J
- Alkhunaizi, Ebba
- Kruszka, Paul
- Pyle, Louise C
- Grange, Dorothy K
- Berger, Seth I
- Payne, Katelyn K
- Masser-Frye, Diane
- Hu, Tommy
- Christie, Michelle R
- Clegg, Nancy J
- Everson, Joshua L
- Martinez, Ariel F
- Walsh, Laurence E
- Bedoukian, Emma
- Jones, Marilyn C
- Harris, Catharine Jean
- Riedhammer, Korbinian M
- Choukair, Daniela
- Fechner, Patricia Y
- Rutter, Meilan M
- Hufnagel, Sophia B
- Roifman, Maian
- Kletter, Gad B
- Delot, Emmanuele
- Vilain, Eric
- Lipinski, Robert J
- Vezina, Chad M
- Muenke, Maximilian
- Chitayat, David
Producer: 20200417
In:
American journal of human genetics vol. 106
Availability: No items available.
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2957.
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2958.
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2959.
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2960.
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