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Refinado por: assunto: Mutation remover
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Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era
Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era
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Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era

Goyal, Gaurav ; Heaney, Mark L. ; Collin, Matthew ; Cohen-Aubart, Fleur ; Vaglio, Augusto ; Durham, Benjamin H. ; Hershkovitz-Rokah, Oshrat ; Girschikofsky, Michael ; Jacobsen, Eric D. ; Toyama, Kazuhiro ; Goodman, Aaron M. ; Hendrie, Paul ; Cao, Xin-xin ; Estrada-Veras, Juvianee I. ; Shpilberg, Ofer ; Abdo, André ; Kurokawa, Mineo ; Dagna, Lorenzo ; McClain, Kenneth L. ; Mazor, Roei D. ; Picarsic, Jennifer ; Janku, Filip ; Go, Ronald S. ; Haroche, Julien ; Diamond, Eli L.

Blood, 2020-05, Vol.135 (22), p.1929-1945 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Medical genetics and genomic medicine in the Dominican Republic: challenges and opportunities
Medical genetics and genomic medicine in the Dominican Republic: challenges and opportunities
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Medical genetics and genomic medicine in the Dominican Republic: challenges and opportunities

Estrada‐Veras, Juvianee I. ; Cabrera‐Peña, Giselle A. ; Pérez‐Estrella de Ferrán, Ceila

Molecular genetics & genomic medicine, 2016-05, Vol.4 (3), p.243-256 [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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3
Mutation update for the SATB2 gene
Mutation update for the SATB2 gene
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Mutation update for the SATB2 gene

Zarate, Yuri A. ; Bosanko, Katherine A. ; Caffrey, Aisling R. ; Bernstein, Jonathan A. ; Martin, Donna M. ; Williams, Marc S. ; Berry‐Kravis, Elizabeth M. ; Mark, Paul R. ; Manning, Melanie A. ; Bhambhani, Vikas ; Vargas, Marcelo ; Seeley, Andrea H. ; Estrada‐Veras, Juvianee I. ; Dooren, Marieke F. ; Schwab, Maria ; Vanderver, Adeline ; Melis, Daniela ; Alsadah, Adnan ; Sadler, Laurie ; Esch, Hilde ; Callewaert, Bert ; Oostra, Ann ; Maclean, Jane ; Dentici, Maria Lisa ; Orlando, Valeria ; Lipson, Mark ; Sparagana, Steven P. ; Maarup, Timothy J. ; Alsters, Suzanne IM ; Brautbar, Ariel ; Kovitch, Eliana ; Naidu, Sakkubai ; Lees, Melissa ; Smith, Douglas M. ; Turner, Lesley ; Raggio, Víctor ; Spangenberg, Lucía ; Garcia‐Miñaúr, Sixto ; Roeder, Elizabeth R. ; Littlejohn, Rebecca O. ; Grange, Dorothy ; Pfotenhauer, Jean ; Jones, Marilyn C. ; Balasubramanian, Meena ; Martinez‐Monseny, Antonio ; Blok, Lot Snijders ; Gavrilova, Ralitza ; Fish, Jennifer L.

Human mutation, 2019-08, Vol.40 (8), p.1013-1029, Article humu.23771 [Periódico revisado por pares]

United States: Hindawi Limited

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4
Thoracic involvement in Erdheim-Chester disease: computed tomography imaging findings and their association with the BRAF V600E mutation
Thoracic involvement in Erdheim-Chester disease: computed tomography imaging findings and their association with the BRAF V600E mutation
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Thoracic involvement in Erdheim-Chester disease: computed tomography imaging findings and their association with the BRAF V600E mutation

Mirmomen, S Mojdeh ; Sirajuddin, Arlene ; Nikpanah, Moozhan ; Symons, Rolf ; Paschall, Anna K ; Papageorgiou, Ioannis ; Gahl, William A ; O'Brien, Kevin ; Estrada-Veras, Juvianee I ; Malayeri, Ashkan A

European radiology, 2018-11, Vol.28 (11), p.4635-4642 [Periódico revisado por pares]

Germany: Springer Nature B.V

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5
Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAF V600E mutation
Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAF V600E mutation
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Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAF V600E mutation

Nikpanah, Moozhan ; Kim, Lauren ; Mirmomen, S Mojdeh ; Symons, Rolf ; Papageorgiou, Ioannis ; Gahl, William A ; O'Brien, Kevin ; Estrada-Veras, Juvianee I ; Malayeri, Ashkan A

European radiology, 2018-09, Vol.28 (9), p.3751-3759 [Periódico revisado por pares]

Germany: Springer Nature B.V

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6
Skeletal involvement in Erdheim-Chester disease: Multimodality imaging features and association with the BRAF V600E mutation
Skeletal involvement in Erdheim-Chester disease: Multimodality imaging features and association with the BRAF V600E mutation
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Skeletal involvement in Erdheim-Chester disease: Multimodality imaging features and association with the BRAF V600E mutation

Nikpanah, Moozhan ; Dehghani Firouzabadi, Fatemeh ; Farhadi, Faraz ; Mirmomen, S Mojdeh ; Ahlman, Mark A ; Huda, Fahimul ; Millo, Corina ; Saboury, Babak ; Paschall, Anna K ; Gahl, William A ; Estrada-Veras, Juvianee I ; Turkbey, Evrim ; Jones, Elizabeth C ; O'Brien, Kevin ; Malayeri, Ashkan A

Clinical imaging, 2024-02, Vol.106, p.110067 [Periódico revisado por pares]

United States

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