نتائج البحث - Bertola, Debora

Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects حسب Romeo Bertola, Débora, Honjo, Rachel S., Baratela, Wagner A.R.

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Infantile autism and 47,XYY karyotype حسب Kuczynski, Evelyn, Bertola, Débora Romeo, Castro, Cláudia Irene Emílio de, Koiffmann, Célia Priszkulnik, Kim, Chong A.

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Omodysplasia: the first reported Brazilian case حسب Albano, Lílian Maria, Oliveira, Luiz A. N., Bertola, Débora R., Mazzu, Juliana F., Kim, Chong Ae

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Noonan syndrome: a clinical and genetic study of 31 patients حسب Bertola, Débora Romeo, Sugayama, Sofia M. M., Albano, Lilian Maria José, Chong, Ae Kim, Gonzalez, Claudette Hajaj

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The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dyspl... حسب Fonseca, Ana Carolina S, Bonaldi, Adriano, Bertola, Débora R, Kim, Chong A, Otto, Paulo A, Vianna-Morgante, Angela M

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Genetics and genomics in Brazil: a promising future حسب Passos-Bueno, Maria Rita, Bertola, Debora, Horovitz, Dafne Dain Gandelman, de Faria Ferraz, Victor Evangelista, Brito, Luciano Abreu

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

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Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers حسب Dutra, Roberta Lelis, de Campos Pieri, Patrícia, Teixeira, Ana Carolina Dias, Honjo, Rachel Sayuri, Bertola, Debora Romeo, Kim, Chong Ae

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Phenotypic Spectrum of Costello Syndrome Individuals Harboring the Rare HRAS Mutation p.Gly13Asp حسب Bertola, Débora, Buscarilli, Michelle, Stabley, Deborah L., Baker, Laura, Doyle, Daniel, Bartholomew, Dennis W., Sol-Church, Katia, Gripp, Karen W.

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Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers حسب Dutra, Roberta Lelis, Pieri, Patrícia de Campos, Teixeira, Ana Carolina Dias, Honjo, Rachel Sayuri, Bertola, Debora Romeo, Kim, Chong Ae

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Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries حسب Dutra, Roberta L, Honjo, Rachel S, Kulikowski, Leslie D, Fonseca, Fernanda M, Pieri, Patrícia C, Jehee, Fernanda S, Bertola, Debora R, Kim, Chong A

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Visceral Myopathy: Clinical and Molecular Survey of a Cohort of Seven New Patients and State of the Art of Overlapping Phenotypes حسب Moreno, Carolina Araujo, Metze, Konradin, Lomazi, Elizete Aparecida, Bertola, Débora Romeo, Barbosa, Ricardo Henrique Almeida, Cosentino, Viviana, Sobreira, Nara, Cavalcanti, Denise Pontes

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Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis حسب Albano, Lilian Maria José, Sakae, Paula Priscila Ohara, Mataloun, Marta Maria Galli Bozzo, Leone, Clea Rodrigues, Bertola, Débora R., Kim, Chong Ae

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Cardiac findings in 31 patients with Noonan's syndrome حسب Bertola, Débora Romeo, Chong, Ae Kim, Sugayama, Sofia M. M., Albano, Lilian Maria José, Wagenführ, Jaqueline, Moysés, Regina Lúcia, Gonzalez, Claudette Hajaj

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Friedreich's Ataxia: Cardiac Evaluation of 25 Patients with Clinical Diagnosis and Literature Review حسب Albano, Lilian Maria José, Nishioka, Silvana Angelina Dório, Moysés, Regina Lucia, Wagenführ, Jaqueline, Bertola, Débora, Sugayama, Sofia Mizuho Miura, Chong, A. Kim

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Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu–Cheney syndrome حسب Gray, Mary J, Kim, Chong Ae, Bertola, Debora Romeo, Arantes, Paula Ricci, Stewart, Helen, Simpson, Michael A, Irving, Melita D, Robertson, Stephen P

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Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome حسب Hatagami Marques, Júlia, Lopes Yamamoto, Guilherme, de Cássia Testai, Larissa, da Costa Pereira, Alexandre, Kim, Chong Ae, Passos-Bueno, Maria R., Romeo Bertola, Débora

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Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? حسب Brasil, Amanda Salem, Malaquias, Alexsandra C., Wanderley, Luciana Turolla, Kim, Chong Ae, Krieger, José Eduardo, Jorge, Alexander A. L., Pereira, Alexandre C., Bertola, Débora Romeo

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Clinical and radiological aspects in Melnick-Needles syndrome حسب Albano, Lilian M. J., Chong, A. Kim, Lee, Vivian K., Sugayama, Sofia M. M., Barba, Mário F., Utagawa, Cláudia Y., Bertola, Débora, Gonzalez, Claudette H.

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