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Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? [electronic resource] by
- Romani, Marta
- Mancini, Francesca
- Micalizzi, Alessia
- Poretti, Andrea
- Miccinilli, Elide
- Accorsi, Patrizia
- Avola, Emanuela
- Bertini, Enrico
- Borgatti, Renato
- Romaniello, Romina
- Ceylaner, Serdar
- Coppola, Giangennaro
- D'Arrigo, Stefano
- Giordano, Lucio
- Janecke, Andreas R
- Lituania, Mario
- Ludwig, Kathrin
- Martorell, Loreto
- Mazza, Tommaso
- Odent, Sylvie
- Pinelli, Lorenzo
- Poo, Pilar
- Santucci, Margherita
- Signorini, Sabrina
- Simonati, Alessandro
- Spiegel, Ronen
- Stanzial, Franco
- Steinlin, Maja
- Tabarki, Brahim
- Wolf, Nicole I
- Zibordi, Federica
- Boltshauser, Eugen
- Valente, Enza Maria
Producer: 20150305
In:
Human genetics vol. 134
Availability: No items available.
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Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations. [electronic resource] by
- Field, Michael
- Scheffer, Ingrid E
- Gill, Deepak
- Wilson, Meredith
- Christie, Louise
- Shaw, Marie
- Gardner, Alison
- Glubb, Georgie
- Hobson, Lynne
- Corbett, Mark
- Friend, Kathryn
- Willis-Owen, Saffron
- Gecz, Jozef
Producer: 20121012
In:
European journal of human genetics : EJHG vol. 20
Availability: No items available.
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457.
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OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome. [electronic resource] by
- Chevrier, Véronique
- Bruel, Ange-Line
- Van Dam, Teunis J P
- Franco, Brunella
- Lo Scalzo, Melissa
- Lembo, Frédérique
- Audebert, Stéphane
- Baudelet, Emilie
- Isnardon, Daniel
- Bole, Angélique
- Borg, Jean-Paul
- Kuentz, Paul
- Thevenon, Julien
- Burglen, Lydie
- Faivre, Laurence
- Rivière, Jean-Baptiste
- Huynen, Martijn A
- Birnbaum, Daniel
- Rosnet, Olivier
- Thauvin-Robinet, Christel
Producer: 20161213
In:
Human molecular genetics vol. 25
Availability: No items available.
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