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2121.
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2122.
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Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome? [electronic resource] by
- Isidor, Bertrand
- Le Meur, Guylène
- Conti, Carole
- Caldagues, Emmanuelle
- Lainey, Elodie
- Launay, Elise
- Leclair, Marc David
- Le Francois, Thomas
- Pichon, Olivier
- Boisseau, Pierre
- Migraine, Audrey
- Keren, Boris
- Le Caignec, Cédric
- Crow, Yanick J
- David, Albert
Producer: 20131017
In:
American journal of medical genetics. Part A vol. 161A
Availability: No items available.
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2123.
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2124.
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2131.
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2132.
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Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. [electronic resource] by
- Chen, Rui
- Giliani, Silvia
- Lanzi, Gaetana
- Mias, George I
- Lonardi, Silvia
- Dobbs, Kerry
- Manis, John
- Im, Hogune
- Gallagher, Jennifer E
- Phanstiel, Douglas H
- Euskirchen, Ghia
- Lacroute, Philippe
- Bettinger, Keith
- Moratto, Daniele
- Weinacht, Katja
- Montin, Davide
- Gallo, Eleonora
- Mangili, Giovanna
- Porta, Fulvio
- Notarangelo, Lucia D
- Pedretti, Stefania
- Al-Herz, Waleed
- Alfahdli, Wasmi
- Comeau, Anne Marie
- Traister, Russell S
- Pai, Sung-Yun
- Carella, Graziella
- Facchetti, Fabio
- Nadeau, Kari C
- Snyder, Michael
- Notarangelo, Luigi D
Producer: 20131112
In:
The Journal of allergy and clinical immunology vol. 132
Availability: No items available.
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2133.
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2134.
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