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X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation. [electronic resource] by
- Savasta, Salvatore
- Carlone, Giorgia
- Castagnoli, Riccardo
- Chiappe, Francesca
- Bassanese, Francesco
- Piras, Roberta
- Salpietro, Vincenzo
- Brazzelli, Valeria
- Verrotti, Alberto
- Marseglia, Gian L
Producer: 20171020
In:
Cytogenetic and genome research vol. 152
Availability: No items available.
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Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case. [electronic resource] by
- Mari, Francesca
- Giachino, Daniela
- Russo, Lucia
- Pilia, Giuseppe
- Ariani, Francesca
- Scala, Elisa
- Chiappe, Francesca
- Sampieri, Katia
- Caporossi, Aldo
- Renieri, Alessandra
- Lasorella, Giacomo
Producer: 20060822
In:
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus vol. 10
Availability: No items available.
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Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders. [electronic resource] by
- Herholz, Jana
- Meloni, Alessandra
- Marongiu, Mara
- Chiappe, Francesca
- Deiana, Manila
- Herrero, Carmen Roche
- Zampino, Giuseppe
- Hamamy, Hanan
- Zalloum, Yusra
- Waaler, Per Erik
- Crisponi, Giangiorgio
- Crisponi, Laura
- Rutsch, Frank
Producer: 20110801
In:
European journal of human genetics : EJHG vol. 19
Availability: No items available.
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Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. [electronic resource] by
- Crisponi, Laura
- Crisponi, Giangiorgio
- Meloni, Alessandra
- Toliat, Mohammad Reza
- Nurnberg, Gudrun
- Usala, Gianluca
- Uda, Manuela
- Masala, Marco
- Hohne, Wolfgang
- Becker, Christian
- Marongiu, Mara
- Chiappe, Francesca
- Kleta, Robert
- Rauch, Anita
- Wollnik, Bernd
- Strasser, Friedrich
- Reese, Thomas
- Jakobs, Cornelis
- Kurlemann, Gerd
- Cao, Antonio
- Nurnberg, Peter
- Rutsch, Frank
Producer: 20070611
In:
American journal of human genetics vol. 80
Availability: No items available.
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Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome. [electronic resource] by
- Piras, Roberta
- Chiappe, Francesca
- Torraca, Ilaria La
- Buers, Insa
- Usala, Gianluca
- Angius, Andrea
- Akin, Mustafa Ali
- Basel-Vanagaite, Lina
- Benedicenti, Francesco
- Chiodin, Elisabetta
- El Assy, Osama
- Feingold-Zadok, Michal
- Guibert, Javier
- Kamien, Benjamin
- Kasapkara, Ciğdem Seher
- Kiliç, Esra
- Boduroğlu, Koray
- Kurtoglu, Selim
- Manzur, Adnan Y
- Onal, Eray Esra
- Paderi, Enrica
- Roche, Carmen Herrero
- Tümer, Leyla
- Unal, Sezin
- Utine, Gülen Eda
- Zanda, Giovanni
- Zankl, Andreas
- Zampino, Giuseppe
- Crisponi, Giangiorgio
- Crisponi, Laura
- Rutsch, Frank
Producer: 20150129
In:
Human mutation vol. 35
Availability: No items available.
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