Ngā hua rapu - Estrada-Veras, Juvianee

Palliative Care for Patients with Cystic Fibrosis #265 mā Estrada-Veras, Juvianee, Groninger, Hunter

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MON-605 Hypothyroidism in Erdheim-Chester Disease: Experience from a Tertiary Care National Referral Center mā Shekhar, Skand, Hannah-Shmouni, Fady, Gahl, William, Estrada-Veras, Juvianee, Brien, Kevin

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FDG PET images in a patient with Erdheim-Chester Disease mā Sioka, Chrissa, Estrada-Veras, Juvianee, Maric, Irinia, Gahl, William A., Chen, Clara C.

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Medical genetics and genomic medicine in the Dominican Republic: challenges and opportunities mā Estrada‐Veras, Juvianee I., Cabrera‐Peña, Giselle A., Pérez‐Estrella de Ferrán, Ceila

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Diabetes insipidus, bone lesions, and new onset red-brown papules in a 42 year-old male mā Kornik, Rachel I., Naik, Haley B., Lee, Chyi-Chia Richard, Estrada-Veras, Juvianee, Gahl, William A., Cowen, Edward W.

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Return of secondary findings in genomic sequencing: Military implications mā Hellwig, Lydia D., Turner, Clesson, Manolio, Teri A., Haigney, Mark, James, Cynthia A., Murray, Brittney, Szpisjak, Dale F., Muldoon, Sheila, Estrada‐Veras, Juvianee, Krokosky, Alyson, De Castro, Mauricio J.

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Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg mā Schmidt, Lindsey, Wain, Karen E., Hajek, Catherine, Estrada-Veras, Juvianee I., Guillen Sacoto, Maria J., Wentzensen, Ingrid M., Malhotra, Alka, Clause, Amanda, Perry, Denise, Moreno-De-Luca, Andres, Bell, Megan

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Abnormal Pituitary Imaging and Associated Endocrine Dysfunctions in Erdheim-Chester Disease mā Shekhar, Skand, Irizarry-Caro, Jorge A, Sinaii, Ninet, Gahl, William, Estrada-Veras, Juvianee I, Dave, Rahul, Papadakis, Georgios Z, Patronas, Nicholas, Stratakis, Constantine A, O’Brien, Kevin, Hannah-Shmouni, Fady

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Neurological manifestations of Erdheim–Chester Disease mā 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.

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Clinical and Histopathologic Features of Interstitial Lung Disease in Erdheim–Chester Disease mā Haroutunian, Sara G., O’Brien, Kevin J., Estrada-Veras, Juvianee I., Yao, Jianhua, Boyd, Louisa C., Mathur, Kavya, Gahl, William A., Mirmomen, S. Mojdeh, Malayeri, Ashkan A., Kleiner, David E., Jaffe, Elaine S., Gochuico, Bernadette R.

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Pituitary Imaging Abnormalities and Related Endocrine Disorders in Erdheim–Chester Disease mā Shekhar, Skand, Irizarry-Caro, Jorge A., Sinaii, Ninet, Gahl, William A., Estrada-Veras, Juvianee I., Dave, Rahul H., Gochuico, Bernadette R., Papadakis, Georgios Z., Patronas, Nicholas, Stratakis, Constantine A., O’Brien, Kevin, Hannah-Shmouni, Fady

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Prevalence of Hypothyroidism in Patients With Erdheim-Chester Disease mā Shekhar, Skand, Sinaii, Ninet, Irizarry-Caro, Jorge A., Gahl, William A, Estrada-Veras, Juvianee I., Dave, Rahul, Papadakis, Georgios Z., Tirosh, Amit, Abel, Brent S., Klubo-Gwiezdzinska, Joanna, Skarulis, Monica C., Gochuico, Bernadette R., O’Brien, Kevin, Hannah-Shmouni, Fady

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Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease mā Diamond, Eli L., Dagna, Lorenzo, Hyman, David M., Cavalli, Giulio, Janku, Filip, Estrada-Veras, Juvianee, Ferrarini, Marina, Abdel-Wahab, Omar, Heaney, Mark L., Scheel, Paul J., Feeley, Nancy K., Ferrero, Elisabetta, McClain, Kenneth L., Vaglio, Augusto, Colby, Thomas, Arnaud, Laurent, Haroche, Julien

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The clinical spectrum of Erdheim-Chester disease: an observational cohort study mā Estrada-Veras, Juvianee I., O’Brien, Kevin J., Boyd, Louisa C., Dave, Rahul H., Durham, Benjamin H., Xi, Liqiang, Malayeri, Ashkan A., Chen, Marcus Y., Gardner, Pamela J., Alvarado Enriquez, Jhonell R., Shah, Nikeith, Abdel-Wahab, Omar, Gochuico, Bernadette R., Raffeld, Mark, Jaffe, Elaine S., Gahl, William A.

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Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness mā Slavotinek, Anne, Misceo, Doriana, Htun, Stephanie, Mathisen, Linda, Frengen, Eirik, Foreman, Michelle, Hurtig, Jennifer E, Enyenihi, Liz, Sterrett, Maria C, Leung, Sara W, Schneidman-Duhovny, Dina, Estrada-Veras, Juvianee, Duncan, Jacque L, Haaxma, Charlotte A, Kamsteeg, Erik-Jan, Xia, Vivian, Beleford, Daniah, Si, Yue, Douglas, Ganka, Treidene, Hans Einar, van Hoof, Ambro, Fasken, Milo B, Corbett, Anita H

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Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish mā Lin, Sheng-Jia, Vona, Barbara, Barbalho, Patricia G, Kaiyrzhanov, Rauan, Maroofian, Reza, Petree, Cassidy, Severino, Mariasavina, Stanley, Valentina, Varshney, Pratishtha, Bahena, Paulina, Alzahrani, Fatema, Alhashem, Amal, Pagnamenta, Alistair T, Aubertin, Gudrun, Estrada-Veras, Juvianee I, Hernández, Héctor Adrián Díaz, Mazaheri, Neda, Oza, Andrea, Thies, Jenny, Renaud, Deborah L, Dugad, Sanmati, McEvoy, Jennifer, Sultan, Tipu, Pais, Lynn S, Tabarki, Brahim, Villalobos-Ramirez, Daniel, Rad, Aboulfazl, Galehdari, Hamid, Ashrafzadeh, Farah, Sahebzamani, Afsaneh, Saeidi, Kolsoum, Torti, Erin, Elloumi, Houda Z, Mora, Sara, Palculict, Timothy B, Yang, Hui, Wren, Jonathan D, Fowler, Ben, Joshi, Manali, Behra, Martine, Burgess, Shawn M, Nath, Swapan K, Hanna, Michael G, Kenna, Margaret, Merritt, J Lawrence, Houlden, Henry, Karimiani, Ehsan Ghayoor, Zaki, Maha S, Haaf, Thomas, Alkuraya, Fowzan S, Gleeson, Joseph G, Varshney, Gaurav K

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