Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2
Sandrin-Garcia, Paula, Abramides, Dagma V. M, Martelli, Lúcia R, Ramos, Ester S, Richieri-Costa, Antônio, Passos, Geraldo A. S
Published in Molecular and cellular biochemistry (01.09.2007)
Published in Molecular and cellular biochemistry (01.09.2007)
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Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins
Mozer Joaquim, Tatiana, Paiva Grangeiro, Carlos H., Gaona de Oliveira Gennaro, Flávia, Galvão Gomes, Alexandra, Squire, Jeremy A., Martelli, Lucia R.
Published in Molecular syndromology (01.11.2019)
Published in Molecular syndromology (01.11.2019)
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Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes
Mazzeu, Juliana F., Krepischi-Santos, Ana Cristina, Rosenberg, Carla, Lourenço, Charles M., Lezirovitz, Karina, Szuhai, Karoly, Martelli, Lúcia R., Vianna-Morgante, Angela M.
Published in Genetics and molecular biology (01.03.2007)
Published in Genetics and molecular biology (01.03.2007)
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Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability
Zhang, Chaofan, Jolly, Angad, Shayota, Brian J., Mazzeu, Juliana F., Du, Haowei, Dawood, Moez, Soper, Patricia Celestino, Ramalho de Lima, Ariadne, Ferreira, Bárbara Merfort, Coban-Akdemir, Zeynep, White, Janson, Shears, Deborah, Thomson, Fraser Robert, Douglas, Sarah Louise, Wainwright, Andrew, Bailey, Kathryn, Wordsworth, Paul, Oldridge, Mike, Lester, Tracy, Calder, Alistair D., Dumic, Katja, Banka, Siddharth, Donnai, Dian, Jhangiani, Shalini N., Potocki, Lorraine, Chung, Wendy K., Mora, Sara, Northrup, Hope, Ashfaq, Myla, Rosenfeld, Jill A., Mason, Kati, Pollack, Lynda C., McConkie-Rosell, Allyn, Kelly, Wei, McDonald, Marie, Hauser, Natalie S., Leahy, Peter, Powell, Cynthia M., Boy, Raquel, Honjo, Rachel Sayuri, Kok, Fernando, Martelli, Lucia R., Filho, Vicente Odone, Genomics England Research Consortium, Muzny, Donna M., Gibbs, Richard A., Posey, Jennifer E., Liu, Pengfei, Lupski, James R., Sutton, V. Reid, Carvalho, Claudia M.B.
Published in HGG advances (13.01.2022)
Published in HGG advances (13.01.2022)
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polymorphism in MUC1 gene in Nelore cattle
Souza, F.R.P. de, Dentillo, D.B, Meola, J, Biase, F.H, Andréa, M.V, Vozzi, P.A, Lôbo, R.B, Martelli, L.R
Published in Journal of animal breeding and genetics (1986) (01.02.2007)
Published in Journal of animal breeding and genetics (1986) (01.02.2007)
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