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Genetic Testing and Molecular Biomarkers|April 18, 2009
Spondylocostal dysostosis associated with methylmalonic aciduriaRachel S Honjo, Erasmo B Casella, Maria A Vieira, et al.
Cytogenetic and Genome Research|September 26, 2016
Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental DisabilityGil M Novo-Filho, Marília M Montenegro, Évelin A Zanardo, et al.
Clinical Genetics|November 8, 2017
Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrumD R Bertola, G Hsia, L Alvizi, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 31, 2020
Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in BrazilDébora R Bertola, Matheus A A Castro, Guilherme L Yamamoto, et al.
Molecular Genetics and Metabolism Reports|March 7, 2020
Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin AmericaMarthaL Solano, Alejandro Fainboim, Juan Politei, et al.
Hormone Research in Paediatrics|November 14, 2017
Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown CauseThais K Homma, Ana C V Krepischi, Tatiane K Furuya, et al.
Cytogenetic and Genome Research|April 2, 2019
Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell LinesYanca Gasparini, Marília M Montenegro, Gil M Novo-Filho, et al.
Molecular Oncology|November 12, 2013
ALDH-1 expression levels predict response or resistance to preoperative chemoradiation in resectable esophageal cancer patientsJ A Ajani, X Wang, S Song, et al.
Journal of Human Genetics|July 25, 2019
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndromeHiromi Aoi, Takeshi Mizuguchi, José Ricard Ceroni, et al.
Hormone Research in Paediatrics|May 28, 2019
Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan SyndromeAlexsandra C Malaquias, Renata M Noronha, Thaiana T O Souza, et al.
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