Results
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141.
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142.
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143.
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Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. [electronic resource] by
- Ben Yaou, Rabah
- Navarro, Claire
- Quijano-Roy, Susana
- Bertrand, Anne T
- Massart, Catherine
- De Sandre-Giovannoli, Annachiara
- Cadiñanos, Juan
- Mamchaoui, Kamel
- Butler-Browne, Gillian
- Estournet, Brigitte
- Richard, Pascale
- Barois, Annie
- Lévy, Nicolas
- Bonne, Gisèle
Producer: 20110913
In:
European journal of human genetics : EJHG vol. 19
Availability: No items available.
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144.
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145.
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146.
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Rapamycin treatment of Mandibuloacral dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics. [electronic resource] by
- Cenni, Vittoria
- Capanni, Cristina
- Mattioli, Elisabetta
- Columbaro, Marta
- Wehnert, Manfred
- Ortolani, Michela
- Fini, Milena
- Novelli, Giuseppe
- Bertacchini, Jessika
- Maraldi, Nadir M
- Marmiroli, Sandra
- D'Apice, Maria Rosaria
- Prencipe, Sabino
- Squarzoni, Stefano
- Lattanzi, Giovanna
Producer: 20150629
In:
Aging vol. 6
Availability: No items available.
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147.
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Calcinosis is associated with digital ulcers and osteoporosis in patients with systemic sclerosis: A Scleroderma Clinical Trials Consortium study. [electronic resource] by
- Valenzuela, Antonia
- Baron, Murray
- Herrick, Ariane L
- Proudman, Susanna
- Stevens, Wendy
- Rodriguez-Reyna, Tatiana S
- Vacca, Alessandra
- Medsger, Thomas A
- Hinchcliff, Monique
- Hsu, Vivien
- Wu, Joy Y
- Fiorentino, David
- Chung, Lorinda
Producer: 20171109
In:
Seminars in arthritis and rheumatism vol. 46
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148.
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Altered chromatin organization and SUN2 localization in mandibuloacral dysplasia are rescued by drug treatment. [electronic resource] by
- Camozzi, Daria
- D'Apice, Maria Rosaria
- Schena, Elisa
- Cenni, Vittoria
- Columbaro, Marta
- Capanni, Cristina
- Maraldi, Nadir M
- Squarzoni, Stefano
- Ortolani, Michela
- Novelli, Giuseppe
- Lattanzi, Giovanna
Producer: 20130213
In:
Histochemistry and cell biology vol. 138
Availability: No items available.
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149.
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A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome. [electronic resource] by
- Bredrup, Cecilie
- Stokowy, Tomasz
- McGaughran, Julie
- Lee, Samuel
- Sapkota, Dipak
- Cristea, Ileana
- Xu, Linda
- Tveit, Kåre Steinar
- Høvding, Gunnar
- Steen, Vidar Martin
- Rødahl, Eyvind
- Bruland, Ove
- Houge, Gunnar
Producer: 20200615
In:
European journal of human genetics : EJHG vol. 27
Availability: No items available.
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150.
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