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Refinado por: Base de dados/Biblioteca: Wiley Online Library Journals remover
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Genome‐Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim‐Chester Disease
Genome‐Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim‐Chester Disease
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Genome‐Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim‐Chester Disease

Martínez‐López, Javier ; Márquez, Ana ; Pegoraro, Francesco ; Ortiz‐Fernández, Lourdes ; Acosta‐Herrera, Marialbert ; Kerick, Martin ; Gelain, Elena ; Diamond, Eli L. ; Durham, Benjamin H. ; Abdel‐Wahab, Omar ; Go, Ronald S. ; Koster, Matthew J. ; Dagna, Lorenzo ; Campochiaro, Corrado ; Collin, Matthew ; Milne, Paul ; Estrada‐Veras, Juvianee I. ; O'Brien, Kevin ; Papo, Matthias ; Cohen‐Aubar, Fleur ; Amoura, Zahir ; Haroche, Julien ; Martín, Javier ; Vaglio, Augusto

Arthritis & rheumatology (Hoboken, N.J.), 2024-01, Vol.76 (1), p.141-145 [Periódico revisado por pares]

Boston, USA: Wiley Periodicals, Inc

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2
Neurological manifestations of Erdheim–Chester Disease
Neurological manifestations of Erdheim–Chester Disease
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Neurological manifestations of Erdheim–Chester Disease

Boyd, Louisa C. ; O’Brien, Kevin J. ; Ozkaya, Neval ; Lehky, Tanya ; Meoded, Avner ; Gochuico, Bernadette R. ; Hannah‐Shmouni, Fady ; Nath, Avindra ; Toro, Camilo ; Gahl, William A. ; Estrada‐Veras, Juvianee I. ; Dave, Rahul H.

Annals of clinical and translational neurology, 2020-04, Vol.7 (4), p.497-506 [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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3
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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4
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 ; vanDooren, Marieke F ; Schwab, Maria ; Vanderver, Adeline ; Melis, Daniela ; Alsadah, Adnan ; Sadler, Laurie ; Van Esch, Hilde ; Callewaert, Bert ; Oostra, Ann ; Maclean, Jane ; Dentici, Maria Lisa ; Orlando, Valeria ; Lipson, Mark ; Sparagana, Steven P ; Maarup, Timothy J ; Alsters, Suzanne I. M ; Brautbar, Ariel ; Kovitch, Eliana ; Naidu, Sakkubai ; Lees, Melissa ; Smith, Douglas M ; Turner, Lesley ; Raggio, Victor ; Spangenberg, Lucia ; Garcia-Minaur, 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

2019

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