Ngā hua rapu - Yamamoto, Guilherme L.

Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? mā Ceroni, José RM, Yamamoto, Guilherme L, Honjo, Rachel S, Kim, Chong A, Passos-Bueno, Maria R, Bertola, Débora R

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Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? mā Ceroni, José RM, Yamamoto, Guilherme L, Honjo, Rachel S, Kim, Chong A, Passos-Bueno, Maria R, Bertola, Débora R

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c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family mā Dantas, Vitor G.L., Lezirovitz, Karina, Yamamoto, Guilherme L., Moura de Souza, Carolina Fischinger, Ferreira, Simone Gomes, Mingroni-Netto, Regina C.

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Thyroid and Breast Cancer in 2 Sisters With Monoallelic Mutations in the Ataxia Telangiectasia Mutated (ATM) Gene mā Miasaki, Fabíola Y, Saito, Kelly C, Yamamoto, Guilherme L, Boguszewski, César L, de Carvalho, Gisah A, Kimura, Edna T, Kopp, Peter A

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c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family mā Dantas, Vitor G.L., Lezirovitz, Karina, Yamamoto, Guilherme L., Souza, Carolina Fischinger Moura de, Ferreira, Simone Gomes, Mingroni-Netto, Regina C.

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Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report mā Cuperman, Thais, Fernandes, Stephanie A, Lourenço, Naila CV, Yamamoto, Lydia U, Silva, Helga CA, Pavanello, Rita CM, Yamamoto, Guilherme L, Zatz, Mayana, Oliveira, Acary SB, Vainzof, Mariz

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Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome mā Kurek, Kyle C., Luks, Valerie L., Ayturk, Ugur M., Alomari, Ahmad I., Fishman, Steven J., Spencer, Samantha A., Mulliken, John B., Bowen, Margot E., Yamamoto, Guilherme L., Kozakewich, Harry P.W., Warman, Matthew L.

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Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy mā Yamamoto, Guilherme L., Baratela, Wagner A.R., Almeida, Tatiana F., Lazar, Monize, Afonso, Clara L., Oyamada, Maria K., Suzuki, Lisa, Oliveira, Luiz A.N., Ramos, Ester S., Kim, Chong A., Passos-Bueno, Maria Rita, Bertola, Débora R.

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Structural variation of the malaria-associated human glycophorin A-B-E region mā Louzada, Sandra, Algady, Walid, Weyell, Eleanor, Zuccherato, Luciana W., Brajer, Paulina, Almalki, Faisal, Scliar, Marilia O., Naslavsky, Michel S., Yamamoto, Guilherme L., Duarte, Yeda A. O., Passos-Bueno, Maria Rita, Zatz, Mayana, Yang, Fengtang, Hollox, Edward J.

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Evidence-based Risk Stratification for Sport Medicine Procedures During the COVID-19 Pandemic mā Hinckel, Betina B., Baumann, Charles A., Ejnisman, Leandro, Cavinatto, Leonardo M., Martusiewicz, Alexander, Tanaka, Miho J., Tompkins, Marc, Sherman, Seth L., Chahla, Jorge A., Frank, Rachel, Yamamoto, Guilherme L., Bicos, James, Arendt, Liza, Fithian, Donald, Farr, Jack

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Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss mā Dantas, Vitor G. L., Raval, Manmeet H., Ballesteros, Angela, Cui, Runjia, Gunther, Laura K., Yamamoto, Guilherme L., Alves, Leandro Ucela, Bueno, André Silva, Lezirovitz, Karina, Pirana, Sulene, Mendes, Beatriz C. A., Yengo, Christopher M., Kachar, Bechara, Mingroni-Netto, Regina C.

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Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy mā Fernandes, Stephanie A., Almeida, Camila F., Souza, Lucas S., Lazar, Monize, Onofre-Oliveira, Paula, Yamamoto, Guilherme L., Nogueira, Letícia, Tasaki, Letícia Y., Cardoso, Rafaela R., Pavanello, Rita C. M., Silva, Helga C. A., Ferrari, Merari F. R., Bigot, Anne, Mouly, Vincent, Vainzof, Mariz

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Development of a comprehensive noninvasive prenatal test mā Malcher, Carolina, Yamamoto, Guilherme L., Burnham, Philip, Ezquina, Suzana A.M., Lourenço, Naila C.V., Balkassmi, Sahilla, Antonio, David S. Marco, Hsia, Gabriella S.P., Gollop, Thomaz, Pavanello, Rita C., Lopes, Marco Antonio, Bakker, Egbert, Zatz, Mayana, Bertola, Débora, Vlaminck, Iwijn De, Passos-Bueno, Maria Rita

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Development of a comprehensive noninvasive prenatal test mā Malcher, Carolina, Yamamoto, Guilherme L., Burnham, Philip, Ezquina, Suzana A.M., Lourenço, Naila C.V., Balkassmi, Sahilla, Antonio, David S. Marco, Hsia, Gabriella S.P., Gollop, Thomaz, Pavanello, Rita C., Lopes, Marco Antonio, Bakker, Egbert, Zatz, Mayana, Bertola, Débora, Vlaminck, Iwijn De, Passos-Bueno, Maria Rita

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Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility mā Toledo, Rodrigo A, Hatakana, Roxanne, Lourenço, Delmar M, Lindsey, Susan C, Camacho, Cleber P, Almeida, Marcio, Lima, José V, Sekiya, Tomoko, Garralda, Elena, Naslavsky, Michel S, Yamamoto, Guilherme L, Lazar, Monize, Meirelles, Osorio, Sobreira, Tiago J P, Lebrao, Maria Lucia, Duarte, Yeda A O, Blangero, John, Zatz, Mayana, Cerutti, Janete M, Maciel, Rui M B, Toledo, Sergio P A

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Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases mā Montenegro, Marilia M., Quaio, Caio R., Palmeira, Patricia, Gasparini, Yanca, Rangel‐Santos, Andreia, Damasceno, Julian, Novak, Estela M., Gimenez, Thamires M., Yamamoto, Guilherme L., Ronjo, Rachel S., Novo‐Filho, Gil M., Chehimi, Samar N., Zanardo, Evelin A., Dias, Alexandre T., Nascimento, Amom M., Costa, Thais V. M. M., Duarte, Alberto J. da S., Coutinho, Luiz L., Kim, Chong A., Kulikowski, Leslie D.

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Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta mā Moosa, Shahida, Yamamoto, Guilherme L., Garbes, Lutz, Keupp, Katharina, Beleza-Meireles, Ana, Moreno, Carolina Araujo, Valadares, Eugenia Ribeiro, de Sousa, Sérgio B., Maia, Sofia, Saraiva, Jorge, Honjo, Rachel S., Kim, Chong Ae, Cabral de Menezes, Hamilton, Lausch, Ekkehart, Lorini, Pablo Villavicencio, Lamounier, Arsonval, Carniero, Tulio Canella Bezerra, Giunta, Cecilia, Rohrbach, Marianne, Janner, Marco, Semler, Oliver, Beleggia, Filippo, Li, Yun, Yigit, Gökhan, Reintjes, Nadine, Altmüller, Janine, Nürnberg, Peter, Cavalcanti, Denise P., Zabel, Bernhard, Warman, Matthew L., Bertola, Debora R., Wollnik, Bernd, Netzer, Christian

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Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil mā Naslavsky, Michel S., Scliar, Marilia O., Yamamoto, Guilherme L., Wang, Jaqueline Yu Ting, Zverinova, Stepanka, Karp, Tatiana, Nunes, Kelly, Ceroni, José Ricardo Magliocco, de Carvalho, Diego Lima, da Silva Simões, Carlos Eduardo, Bozoklian, Daniel, Nonaka, Ricardo, dos Santos Brito Silva, Nayane, da Silva Souza, Andreia, de Souza Andrade, Heloísa, Passos, Marília Rodrigues Silva, Castro, Camila Ferreira Bannwart, Mendes-Junior, Celso T., Mercuri, Rafael L. V., Miller, Thiago L. A., Buzzo, Jose Leonel, Rego, Fernanda O., Araújo, Nathalia M., Magalhães, Wagner C. S., Mingroni-Netto, Regina Célia, Borda, Victor, Guio, Heinner, Rojas, Carlos P., Sanchez, Cesar, Caceres, Omar, Dean, Michael, Barreto, Mauricio L., Lima-Costa, Maria Fernanda, Horta, Bernardo L., Tarazona-Santos, Eduardo, Meyer, Diogo, Galante, Pedro A. F., Guryev, Victor, Castelli, Erick C., Duarte, Yeda A. O., Passos-Bueno, Maria Rita, Zatz, Mayana

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Author Correction: Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil mā Naslavsky, Michel S., Scliar, Marilia O., Yamamoto, Guilherme L., Wang, Jaqueline Yu Ting, Zverinova, Stepanka, Karp, Tatiana, Nunes, Kelly, Ceroni, José Ricardo Magliocco, de Carvalho, Diego Lima, da Silva Simões, Carlos Eduardo, Bozoklian, Daniel, Nonaka, Ricardo, dos Santos Brito Silva, Nayane, da Silva Souza, Andreia, de Souza Andrade, Heloísa, Passos, Marília Rodrigues Silva, Castro, Camila Ferreira Bannwart, Mendes-Junior, Celso T., Mercuri, Rafael L. V., Miller, Thiago L. A., Buzzo, Jose Leonel, Rego, Fernanda O., Araújo, Nathalia M., Magalhães, Wagner C. S., Mingroni-Netto, Regina Célia, Borda, Victor, Guio, Heinner, Rojas, Carlos P., Sanchez, Cesar, Caceres, Omar, Dean, Michael, Barreto, Mauricio L., Lima-Costa, Maria Fernanda, Horta, Bernardo L., Tarazona-Santos, Eduardo, Meyer, Diogo, Galante, Pedro A. F., Guryev, Victor, Castelli, Erick C., Duarte, Yeda A. O., Passos-Bueno, Maria Rita, Zatz, Mayana

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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes mā Burrage, Lindsay C., Reynolds, John J., Baratang, Nissan Vida, Phillips, Jennifer B., Wegner, Jeremy, McFarquhar, Ashley, Higgs, Martin R., Christiansen, Audrey E., Lanza, Denise G., Seavitt, John R., Jain, Mahim, Li, Xiaohui, Parry, David A., Raman, Vandana, Chitayat, David, Chinn, Ivan K., Bertuch, Alison A., Karaviti, Lefkothea, Schlesinger, Alan E., Earl, Dawn, Bamshad, Michael, Savarirayan, Ravi, Doddapaneni, Harsha, Muzny, Donna, Jhangiani, Shalini N., Eng, Christine M., Gibbs, Richard A., Bi, Weimin, Emrick, Lisa, Rosenfeld, Jill A., Postlethwait, John, Westerfield, Monte, Dickinson, Mary E., Beaudet, Arthur L., Ranza, Emmanuelle, Huber, Celine, Cormier-Daire, Valérie, Shen, Wei, Mao, Rong, Heaney, Jason D., Orange, Jordan S., Bertola, Débora, Yamamoto, Guilherme L., Baratela, Wagner A.R., Butler, Merlin G., Ali, Asim, Adeli, Mehdi, Cohn, Daniel H., Krakow, Deborah, Jackson, Andrew P., Lees, Melissa, Offiah, Amaka C., Carlston, Colleen M., Carey, John C., Stewart, Grant S., Bacino, Carlos A., Campeau, Philippe M., Lee, Brendan

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