CYLD mutations in familial skin appendage tumours von Saggar, S, Chernoff, K A, Lodha, S, Horev, L, Kohl, S, Honjo, R S, Brandt, H R C, Hartmann, K, Celebi, J T

Volltext

A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability von Ceroni, J. R. M., Dutra, R. L., Honjo, R. S., Llerena, J. C., Acosta, A. X., Medeiros, P. F. V., Galera, M. F., Zanardo, É. A., Piazzon, F. B., Dias, A. T., Novo-Filho, G. M., Montenegro, M. M., Madia, F. A. R., Bertola, D. R., de Melo, J. B., Kulikowski, L. D., Kim, C. A.

Volltext

Angiokeratoma: a cutaneous marker of Fabry's disease von Albano, L. M. J., Rivitti, C., Bertola, D. R., Honjo, R. S., Kelmann, S. V., Giugliani, R., Kim, C. A.

Volltext

Cri du Chat syndrome: Characteristics of 73 Brazilian patients von Honjo, R. S., Mello, C. B., Pimenta, L. S. E., Nuñes‐Vaca, E. C., Benedetto, L. M., Khoury, R. B. F., Befi‐Lopes, D. M., Kim, C. A.

Volltext

Brachyolmia with amelogenesis imperfecta: Further evidence of a distinct entity von Bertola, D.R., Antequera, R., Rodovalho, M.J., Honjo, R.S., Albano, L.M.J., Furquim, I.M., Oliveira, L.A., Kim, C.A.

Volltext

Richieri‐Costa‐Pereira syndrome: Expanding its phenotypic and genotypic spectrum von Bertola, D.R., Hsia, G., Alvizi, L., Gardham, A., Wakeling, E.L., Yamamoto, G.L., Honjo, R.S., Oliveira, L.A.N., Di Francesco, R.C., Perez, B.A., Kim, C.A., Passos‐Bueno, M.R.

Volltext

Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings von Franco, J F, Soares, D C, Torres, L C, Leal, G N, Cunha, M T, Honjo, R S, Bertola, D R, Kim, C A

Volltext

Assessment of Intellectual and Visuo-Spatial Abilities in Children and Adults with Williams Syndrome von Mika, Michele Moreira, Nunes, M., Honjo, R. S., Dutra, R. L., Amaral, V., Oh, H. K., Bertola, D. R., Albano, L. M. J., Assumpção Júnior, F. B., Teixeira, Maria Cristina, Kim, C. A.

Volltext

Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings von Franco, J F, Soares, D C, Torres, L C, Leal, G N, Cunha, M T, Honjo, R S, Bertola, D R, Kim, C A

Volltext

Angiokeratoma: a cutaneous marker of Fabry’s disease: Angiokeratoma: a cutaneous marker of FD von Albano, L. M. J., Rivitti, C., Bertola, D. R., Honjo, R. S., Kelmann, S. V., Giugliani, R., Kim, C. A.

Volltext

Williams-Beuren syndrome: diagnosis by polymorphic markers von Sbruzzi, Ivanete C, Pereira, Alexandre C, Vasconcelos, Beatriz, Honjo, Raquel S, Krieger, José E, Kim, Chong A

Volltext

Spondylocostal dysostosis associated with methylmalonic aciduria von Honjo, Rachel S, Casella, Erasmo B, Vieira, Maria A, Bertola, Débora R, Albano, Lilian M J, Oliveira, Luiz A, Nomachi, Shosuke, Hanai, Junji, Benoist, Jean-François, Ellard, Sian, Young, Elizabeth, Kim, Chong A

Volltext

Assessment of Intellectual and Visuo- Spatial Abilities in Children and Adults with Williams Syndrome von Michele Moreira Mika, Nunes, M, Honjo, R S, Dutra, R L, Amaral, V, Oh, H K, Bertola, D R, Albano, L M J, Assumpção Júnior, F B, Teixeira, Maria Cristina, Kim, C A

Volltext

Engagement of the PD-1 immunoinhibitory receptor by a novel B7 family member leads to negative regulation of lymphocyte activation von Freeman, G J, Long, A J, Iwai, Y, Bourque, K, Chernova, T, Nishimura, H, Fitz, L J, Malenkovich, N, Okazaki, T, Byrne, M C, Horton, H F, Fouser, L, Carter, L, Ling, V, Bowman, M R, Carreno, B M, Collins, M, Wood, C R, Honjo, T

Volltext

Group Delay Equalized UWB InGaP/GaAs HBT MMIC Amplifier Using Negative Group Delay Circuits von Kyoung-Pyo Ahn, Ishikawa, R., Honjo, K.

Volltext

Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome von Aoi, Hiromi, Mizuguchi, Takeshi, Ceroni, José Ricard, Kim, Veronica Eun Hue, Furquim, Isabel, Honjo, Rachel S, Iwaki, Takuma, Suzuki, Toshifumi, Sekiguchi, Futoshi, Uchiyama, Yuri, Azuma, Yoshiteru, Hamanaka, Kohei, Koshimizu, Eriko, Miyatake, Satoko, Mitsuhashi, Satomi, Takata, Atsushi, Miyake, Noriko, Takeda, Satoru, Itakura, Atsuo, Bertola, Débora R, Kim, Chong Ae, Matsumoto, Naomichi

Volltext

Inhibition of Human Cancer Cell Growth and Metastasis in Nude Mice by Oral Intake of Modified Citrus Pectin von Nangia-Makker, Pratima, Hogan, Victor, Honjo, Yuichiro, Baccarini, Sara, Tait, Larry, Bresalier, Robert, Raz, Avraham

Volltext

Haploinsufficient lethality and formation of arteriovenous malformations in Notch pathway mutants von Krebs, Luke T, Shutter, John R, Tanigaki, Kenji, Honjo, Tasuku, Stark, Kevin L, Gridley, Thomas

Volltext

Factors controlling the flux of organic carbon to the bathypelagic zone of the ocean von Francois, Roger, Honjo, Susumu, Krishfield, Richard, Manganini, Steve

Volltext

Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome von Seyama, Rie, Uchiyama, Yuri, Ceroni, José Ricard Magliocco, Kim, Veronica Eun Hue, Furquim, Isabel, Honjo, Rachel S., Castro, Matheus Augusto Araujo, Pires, Lucas Vieira Lacerda, Aoi, Hiromi, Iwama, Kazuhiro, Hamanaka, Kohei, Fujita, Atsushi, Tsuchida, Naomi, Koshimizu, Eriko, Misawa, Kazuharu, Miyatake, Satoko, Mizuguchi, Takeshi, Makino, Shintaro, Itakura, Atsuo, Bertola, Débora R., Kim, Chong Ae, Matsumoto, Naomichi

Volltext