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A new lamin a mutation associated with acrogeria syndrome. [electronic resource] by
- Hadj-Rabia, Smail
- Mashiah, Jacob
- Roll, Patrice
- Boyer, Amandine
- Bourgeois, Patrice
- Van Kien, Philippe Khau
- Lévy, Nicolas
- De Sandre-Giovannoli, Annachiara
- Bodemer, Christine
- Navarro, Claire
Producer: 20140929
In:
The Journal of investigative dermatology vol. 134
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Ultrastructural scoring of skin biopsies for diagnosis of vascular Ehlers-Danlos syndrome. [electronic resource] by
- Ong, Kim-Thanh
- Plauchu, Henri
- Peyrol, Simone
- Roux, Elisabeth
- Errazuriz, Elisabeth
- Khau Van Kien, Philippe
- Arbeille, Brigitte
- Gaulier, Alain
- Georgescou, Gabriela
- Collignon, Patrick
- Germain, Dominique P
- Gaveau, Marie-Noëlle
- Perdu, Jérôme
- Laurent, Stéphane
- Bruneval, Patrick
- Boutouyrie, Pierre
Producer: 20120814
In:
Virchows Archiv : an international journal of pathology vol. 460
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Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene. [electronic resource] by
- Watanabe, A
- Kawabata, Y
- Okada, O
- Tanabe, N
- Kimura, H
- Hatamochi, A
- Shinkai, H
- Sakai, N
- Shimada, T
- Hiroshima, K
- Kuriyama, T
Producer: 20020726
In:
The European respiratory journal vol. 19
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Ehlers-Danlos syndrome type IV, vascular type, which demonstrated a novel point mutation in the COL3A1 gene. [electronic resource] by
- Sadakata, Rinako
- Hatamochi, Atsushi
- Kodama, Keiji
- Kaga, Akiko
- Yamaguchi, Takefumi
- Soma, Tomoyuki
- Usui, Yutaka
- Nagata, Makoto
- Ohtake, Akira
- Hagiwara, Koichi
- Kanazawa, Minoru
Producer: 20110519
In:
Internal medicine (Tokyo, Japan) vol. 49
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