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X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings. [electronic resource] by
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- Smahi, A
- Vincent, M C
- Calvas, P
- Molla, M
- Lesot, H
- Alembik, Y
- Hadj-Rabia, S
- Bodemer, C
- Manière, M C
- Schmittbuhl, M
Producer: 20110202
In:
Clinical genetics vol. 78
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Characterization of X-linked hypohidrotic ectodermal dysplasia (XL-HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging. [electronic resource] by
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- Landan, Maya
- Seidel, Kerstin
- Tran, Dong-Kha
- Hogue, Jacob
- Chavez, Miquella
- Fete, Mary
- Yu, Wenli
- Hussein, Tarek
- Johnson, Ramsey
- Huttner, Kenneth
- Jheon, Andrew H
- Klein, Ophir D
Producer: 20140214
In:
American journal of medical genetics. Part A vol. 161A
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B cells from nuclear factor kB essential modulator deficient patients fail to differentiate to antibody secreting cells in response to TLR9 ligand. [electronic resource] by
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- Cirillo, Emilia
- Gallo, Vera
- Esposito, Tiziana
- Fusco, Francesca
- Conte, Matilde Immacolata
- Quinti, Isabella
- Ursini, Matilde Valeria
- Carsetti, Rita
- Pignata, Claudio
Producer: 20160229
In:
Clinical immunology (Orlando, Fla.) vol. 161
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New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein. [electronic resource] by
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- Ngadjeua, Flora
- Puel, Anne
- Israel, Laura
- Feinberg, Jacqueline
- Chrabieh, Maya
- Belani, Kiran
- Bodemer, Christine
- Fabre, Isabelle
- Plebani, Alessandro
- Boisson-Dupuis, Stéphanie
- Picard, Capucine
- Fischer, Alain
- Israel, Alain
- Abel, Laurent
- Veron, Michel
- Casanova, Jean-Laurent
- Agou, Fabrice
- Bustamante, Jacinta
Producer: 20111014
In:
Blood vol. 118
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EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population. [electronic resource] by
- Martínez-Romero, María Carmen
- Ballesta-Martínez, María Juliana
- López-González, Vanesa
- Sánchez-Soler, María José
- Serrano-Antón, Ana Teresa
- Barreda-Sánchez, María
- Rodriguez-Peña, Lidya
- Martínez-Menchon, María Teresa
- Frías-Iniesta, José
- Sánchez-Pedreño, Paloma
- Carbonell-Meseguer, Pablo
- Glover-López, Guillermo
- Guillén-Navarro, Encarna
Producer: 20200727
In:
Orphanet journal of rare diseases vol. 14
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Clinical, radiographic, and genetic characteristics of hypohidrotic ectodermal dysplasia: A cross-sectional study. [electronic resource] by
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- Duong, Nguyen Thuy
- Chu, Dinh-Toi
- Hang, Luong M
- Viet, Do H
- Duc, Nguyen M
- Anh, Le Q
- Son, Tong M
- Van Can, Do
- Nga, Vu T
Producer: 20191114
In:
Clinical genetics vol. 94
Availability: No items available.
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