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1841.
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Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene. [electronic resource] by
- Guerra, Liliana
- Bergamo, Fabio
- D'Apice, Maria Rosaria
- Angelucci, Francesco
- di Girolamo, Stefano
- Camerota, Letizia
- Monetta, Rosanna
- Annessi, Giorgio
- Castiglia, Daniele
- Novelli, Giuseppe
- Paradisi, Mauro
- Brancati, Francesco
Producer: 20200420
In:
Acta dermato-venereologica vol. 99
Availability: No items available.
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1842.
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AAGAB Controls AP2 Adaptor Assembly in Clathrin-Mediated Endocytosis. [electronic resource] by
- Gulbranson, Daniel R
- Crisman, Lauren
- Lee, MyeongSeon
- Ouyang, Yan
- Menasche, Bridget L
- Demmitt, Brittany A
- Wan, Chun
- Nomura, Toshifumi
- Ye, Yihong
- Yu, Haijia
- Shen, Jingshi
Producer: 20200515
In:
Developmental cell vol. 50
Availability: No items available.
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1843.
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1844.
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1845.
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1846.
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1847.
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1848.
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1849.
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1850.
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1851.
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1852.
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Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome. [electronic resource] by
- Molho-Pessach, Vered
- Sheffer, Sivan
- Siam, Rula
- Tams, Spiro
- Siam, Ihab
- Awwad, Rula
- Babay, Sofia
- Golender, Julius
- Simanovsky, Natalia
- Ramot, Yuval
- Zlotogorski, Abraham
Producer: 20160630
In:
Pediatric dermatology vol. 32
Availability: No items available.
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1853.
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Palmoplantar keratoderma in Slurp1/Slurp2 double-knockout mice. [electronic resource] by
- Allan, Christopher M
- Heizer, Patrick J
- Jung, Cris J
- Tu, Yiping
- Tran, Deanna
- Young, Lorraine C
- Fong, Loren G
- de Jong, Pieter J
- Beigneux, Anne P
- Young, Stephen G
Producer: 20190612
In:
Journal of dermatological science vol. 89
Availability: No items available.
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1854.
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A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma. [electronic resource] by
- Youssefian, Leila
- Vahidnezhad, Hassan
- Saeidian, Amir Hossein
- Mahmoudi, Hamidreza
- Karamzadeh, Razieh
- Kariminejad, Ariana
- Huang, Jianhe
- Li, Leping
- Jannace, Thomas F
- Fortina, Paolo
- Zeinali, Sirous
- White, Thomas W
- Uitto, Jouni
Producer: 20200309
In:
Human mutation vol. 40
Availability: No items available.
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