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Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. [electronic resource] by
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- Blough, R I
- Giles, R H
- van der Smagt, J J
- Wallerstein, R
- Maaswinkel-Mooy, P D
- van Karnebeek, C D
- van Ommen, G J
- van Haeringen, A
- Rubinstein, J H
- Saal, H M
- Hennekam, R C
- Peters, D J
- Breuning, M H
Producer: 20000420
In:
Journal of medical genetics vol. 37
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662.
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663.
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664.
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665.
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669.
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670.
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671.
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672.
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674.
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675.
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Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. [electronic resource] by
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- Newbury-Ecob, Ruth
- Holder-Espinasse, Muriel
- Yau, Shu
- Lillis, Suzanne
- Hurst, Jane A
- Clement, Emma
- Reardon, William
- Joss, Shelagh
- Hobson, Emma
- Blyth, Moira
- Al-Shehhi, Maryam
- Lynch, Sally A
- Suri, Mohnish
Producer: 20170206
In:
Clinical dysmorphology vol. 25
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None [electronic resource] by
- García-Ramírez, Idoia
- Tadros, Saber
- González-Herrero, Inés
- Martín-Lorenzo, Alberto
- Rodríguez-Hernández, Guillermo
- Moore, Dalia
- Ruiz-Roca, Lucía
- Blanco, Oscar
- Alonso-López, Diego
- Rivas, Javier De Las
- Hartert, Keenan
- Duval, Romain
- Klinkebiel, David
- Bast, Martin
- Vose, Julie
- Lunning, Matthew
- Fu, Kai
- Greiner, Timothy
- Rodrigues-Lima, Fernando
- Jiménez, Rafael
- Criado, Francisco Javier García
- Cenador, María Begoña García
- Brindle, Paul
- Vicente-Dueñas, Carolina
- Alizadeh, Ash
- Sánchez-García, Isidro
- Green, Michael R
Producer: 20170908
In:
Blood vol. 129
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680.
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Platelet-derived factors impair placental chorionic gonadotropin beta-subunit synthesis. [electronic resource] by
- Forstner, Désirée
- Maninger, Sabine
- Nonn, Olivia
- Guettler, Jacqueline
- Moser, Gerit
- Leitinger, Gerd
- Pritz, Elisabeth
- Strunk, Dirk
- Schallmoser, Katharina
- Marsche, Gunther
- Heinemann, Akos
- Huppertz, Berthold
- Gauster, Martin
Producer: 20210429
In:
Journal of molecular medicine (Berlin, Germany) vol. 98
Availability: No items available.
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