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Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing. [electronic resource] by
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- Franco, Brunella
- Saugier-Veber, Pascale
- Aral, Bernard
- Gigot, Nadège
- Donzel, Anne
- Van Maldergem, Lionel
- Bieth, Eric
- Layet, Valérie
- Mathieu, Michèle
- Teebi, Ahmad
- Lespinasse, James
- Callier, Patrick
- Mugneret, Francine
- Masurel-Paulet, Alice
- Gautier, Elodie
- Huet, Frédéric
- Teyssier, Jean-Raymond
- Tosi, Mario
- Frébourg, Thierry
- Faivre, Laurence
Producer: 20090410
In:
Human mutation vol. 30
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Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene. [electronic resource] by
- Thauvin-Robinet, Christel
- Callier, Patrick
- Franco, Brunella
- Zuffardi, Orsetta
- Payet, Muriel
- Aral, Bernard
- Gigot, Nadège
- Donzel, Anne
- Mosca-Boidron, Anne-Laure
- Masurel-Paulet, Alice
- Huet, Frédéric
- Teyssier, Jean-Raymond
- Mugneret, Francine
- Faivre, Laurence
Producer: 20090930
In:
American journal of medical genetics. Part A vol. 149A
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INTU-related oral-facial-digital syndrome type VI: A confirmatory report. [electronic resource] by
- Bruel, A-L
- Levy, J
- Elenga, N
- Defo, A
- Favre, A
- Lucron, H
- Capri, Y
- Perrin, L
- Passemard, S
- Vial, Y
- Tabet, A-C
- Faivre, L
- Thauvin-Robinet, C
- Verloes, A
Producer: 20191203
In:
Clinical genetics vol. 93
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