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European Journal of Human Genetics : EJHG|January 31, 2013
Molecular and clinical delineation of the 17q22 microdeletion phenotypeTobias Laurell, Johanna Lundin, Britt-Marie Anderlid, et al.Clinical Endocrinology|December 22, 2017
Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypesFernanda A Correa, Alexander Al Jorge, Marilena Nakaguma, et al.American Journal of Medical Genetics. Part A|December 8, 2015
Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literatureMarshall I B Fontes, Ana P Santos, Miriam C Molck, et al.Molecular Syndromology|October 4, 2021
An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected SonAna Eduarda Campos, Carla Rosenberg, Ana Krepischi, et al.American Journal of Medical Genetics. Part A|April 9, 2026
Long-Term Follow Up of Two Patients With Variants in the Cluster 1031-1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and AutismRoseli Maria Zechi-Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini-Pittoli, et al.American Journal of Medical Genetics. Part A|May 20, 2011
5q12.1 deletion: delineation of a phenotype including mental retardation and ocular defectsSylvie Jaillard, Joris Andrieux, Ghislaine Plessis, et al.European Journal of Medical Genetics|October 22, 2021
Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndromeBianca Barbosa Abdala, Andressa Pereira Gonçalves, Jussara Mendonça Dos Santos, et al.Journal of Neurodevelopmental Disorders|July 20, 2019
A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical caseClaudia Ismania Samogy-Costa, Elisa Varella-Branco, Frederico Monfardini, et al.Oncotarget|February 11, 2017
High OCT4A levels drive tumorigenicity and metastatic potential of medulloblastoma cellsPatrícia Benites Gonçalves da Silva, Márcia Cristina Teixeira Dos Santos, Carolina Oliveira Rodini, et al.International Journal of Obesity (2005)|May 21, 2022
Genetic investigation of syndromic forms of obesityLaura Machado Lara Carvalho, Carla Sustek D'Angelo, Darine Villela, et al.Pageof 13