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Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. [electronic resource] by
- Poretti, Andrea
- Vitiello, Giuseppina
- Hennekam, Raoul C M
- Arrigoni, Filippo
- Bertini, Enrico
- Borgatti, Renato
- Brancati, Francesco
- D'Arrigo, Stefano
- Faravelli, Francesca
- Giordano, Lucio
- Huisman, Thierry A G M
- Iannicelli, Miriam
- Kluger, Gerhard
- Kyllerman, Marten
- Landgren, Magnus
- Lees, Melissa M
- Pinelli, Lorenzo
- Romaniello, Romina
- Scheer, Ianina
- Schwarz, Christoph E
- Spiegel, Ronen
- Tibussek, Daniel
- Valente, Enza Maria
- Boltshauser, Eugen
Producer: 20120719
In:
Orphanet journal of rare diseases vol. 7
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486.
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OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment. [electronic resource] by
- Thauvin-Robinet, C
- Thomas, S
- Sinico, M
- Aral, B
- Burglen, L
- Gigot, N
- Dollfus, H
- Rossignol, S
- Raynaud, M
- Philippe, C
- Badens, C
- Touraine, R
- Gomes, C
- Franco, B
- Lopez, E
- Elkhartoufi, N
- Faivre, L
- Munnich, A
- Boddaert, N
- Van Maldergem, L
- Encha-Razavi, F
- Lyonnet, S
- Vekemans, M
- Escudier, E
- Attié-Bitach, T
Producer: 20131230
In:
Clinical genetics vol. 84
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491.
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Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. [electronic resource] by
- Bisschoff, Izak J
- Zeschnigk, Christine
- Horn, Denise
- Wellek, Brigitte
- Rieß, Angelika
- Wessels, Maja
- Willems, Patrick
- Jensen, Peter
- Busche, Andreas
- Bekkebraten, Jens
- Chopra, Maya
- Hove, Hanne Dahlgaard
- Evers, Christina
- Heimdal, Ketil
- Kaiser, Ann-Sophie
- Kunstmann, Erdmut
- Robinson, Kristina Lagerstedt
- Linné, Maja
- Martin, Patricia
- McGrath, James
- Pradel, Winnie
- Prescott, Katrina E
- Roesler, Bernd
- Rudolf, Gorazd
- Siebers-Renelt, Ulrike
- Tyshchenko, Nataliya
- Wieczorek, Dagmar
- Wolff, Gerhard
- Dobyns, William B
- Morris-Rosendahl, Deborah J
Producer: 20130701
In:
Human mutation vol. 34
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Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia. [electronic resource] by
- Thevenon, J
- Duplomb, L
- Phadke, S
- Eguether, T
- Saunier, A
- Avila, M
- Carmignac, V
- Bruel, A-L
- St-Onge, J
- Duffourd, Y
- Pazour, G J
- Franco, B
- Attie-Bitach, T
- Masurel-Paulet, A
- Rivière, J-B
- Cormier-Daire, V
- Philippe, C
- Faivre, L
- Thauvin-Robinet, C
Producer: 20170707
In:
Clinical genetics vol. 90
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