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Author/Creator Crisponi, Giangiorgio

1. 3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum. Issue 1 (28th November 2022)

Authors:
Ashton, Chloe Jade; Perveen, Rahat; Beaman, Glenda; Crisponi, Giangiorgio; González-Del Angel, Ariadna; Garza-Mayén, Gilda; Alcántara-Ortigoza, Miguel Angel; O'Sullivan, James; Clayton-Smith, Jill
Journal:
Clinical dysmorphology
Issue:
Volume 32:Issue 1(2023)
Page Start:
7
Record Type:
Journal Article
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2. Crisponi/cold‐induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts. Issue 1 (16th September 2019)

Authors:
Buers, Insa; Persico, Ivana; Schöning, Lara; Nitschke, Yvonne; Di Rocco, Maja; Loi, Angela; Sahi, Puneet Kaur; Utine, Gulen Eda; Bayraktar‐Tanyeri, Bilge; Zampino, Giuseppe; Crisponi, Giangiorgio; Rutsch, Frank; Crisponi, Laura
Journal:
Clinical genetics
Issue:
Volume 97:Issue 1(2020)
Page Start:
209
Record Type:
Journal Article
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4. Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses. Issue 5 (28th March 2019)

Authors:
Angius, Andrea; Uva, Paolo; Oppo, Manuela; Buers, Insa; Persico, Ivana; Onano, Stefano; Cuccuru, Gianmauro; Van Allen, Margot I.; Hulait, Gurdip; Aubertin, Gudrun; Muntoni, Francesco; Fry, Andrew E.; Annerén, Göran; Stattin, Eva‐Lena; Palomares‐Bralo, María; Santos‐Simarro, Fernando; Cucca, Franc...
Journal:
Clinical genetics
Issue:
Volume 95:Issue 5(2019)
Page Start:
607
Record Type:
Journal Article
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5. Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome. Issue 4 (6th March 2014)

Authors:
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, E...
Journal:
Human mutation
Issue:
Volume 35:Issue 4(2014:Apr.)
Page Start:
424
Record Type:
Journal Article
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