Search Results - "El Assy, Osama"

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa by Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara, Atalay, Hatice Tuba, Inan, Sibel, El Assy, Osama, Smit, Leo M.E., Okur, Ilyas, Boduroglu, Koray, Utine, Gülen Eda, Kılıç, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank

“…Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1) is a very rare autosomal-recessive disorder characterized by a complex phenotype with high…”
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Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa by Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara, Atalay, Hatice Tuba, Inan, Sibel, El Assy, Osama, Smit, Leo M.E., Okur, Ilyas, Boduroglu, Koray, Utine, Gülen Eda, Kılıç, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank

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Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome 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, Çiğdem Seher, Kılıç, 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

“…ABSTRACT Crisponi syndrome (CS) and cold‐induced sweating syndrome type 1 (CISS1) share clinical characteristics, such as dysmorphic features, muscle…”
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