Results
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Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens. [electronic resource] by
- Grangeia, Ana
- Niel, Florence
- Carvalho, Filipa
- Fernandes, Susana
- Ardalan, Azarnouche
- Girodon, Emmanuelle
- Silva, Joaquina
- Ferrás, Luis
- Sousa, Mário
- Barros, Alberto
Producer: 20050323
In:
Human reproduction (Oxford, England) vol. 19
Availability: No items available.
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3.
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22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes. [electronic resource] by
- Portnoï, Marie-France
- Lebas, Fanny
- Gruchy, Nicolas
- Ardalan, Azarnouche
- Biran-Mucignat, Valérie
- Malan, Valérie
- Finkel, Lina
- Roger, Gilles
- Ducrocq, Sarah
- Gold, Francis
- Taillemite, Jean-Louis
- Marlin, Sandrine
Producer: 20050822
In:
American journal of medical genetics. Part A vol. 137
Availability: No items available.
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4.
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Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies. [electronic resource] by
- Doco-Fenzy, Martine
- Mauran, Pierre
- Lebrun, Jean Marie
- Bock, Sylvie
- Bednarek, Nathalie
- Struski, Stéphanie
- Albuisson, Juliette
- Ardalan, Azarnouche
- Collot, Nathalie
- Schneider, Anouck
- Dastot-Le Moal, Florence
- Gaillard, Dominique
- Goossens, Michel
Producer: 20060530
In:
American journal of medical genetics. Part A vol. 140
Availability: No items available.
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5.
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Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3). [electronic resource] by
- Sanlaville, Damien
- Vialard, François
- Thépot, François
- Vue-Droy, Luce
- Ardalan, Azarnouche
- Nizard, Patrice
- Corré, Alain
- Devauchelle, Bernard
- Martin-Denavit, Tanguy
- Nouchy, Marc
- Malan, Valérie
- Taillemite, Jean-Louis
- Portnoï, Marie-France
Producer: 20050124
In:
American journal of medical genetics. Part A vol. 128A
Availability: No items available.
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6q16.3q23.3 duplication associated with Prader-Willi-like syndrome. [electronic resource] by
- Desch, Laurent
- Marle, Nathalie
- Mosca-Boidron, Anne-Laure
- Faivre, Laurence
- Eliade, Marie
- Payet, Muriel
- Ragon, Clemence
- Thevenon, Julien
- Aral, Bernard
- Ragot, Sylviane
- Ardalan, Azarnouche
- Dhouibi, Nabila
- Bensignor, Candace
- Thauvin-Robinet, Christel
- El Chehadeh, Salima
- Callier, Patrick
Producer: 20150625
In:
Molecular cytogenetics vol. 8
Availability: No items available.
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