Work

Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion

Year: 2014

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.36512

Authors: Roberta Santos Guilherme, Karina Cunha Soares, Milena Simioni, Tarsis Paiva Vieira, Vera Lúcia Gil‐da‐Silva‐Lopes, Chong Ae Kim, Décio Brunoni, Nancy Bettina Spinner, Laura Kathleen Conlin, Denise Maria Christofolini, Leslie Domenici Kulikowski, Carlos Eduardo Steiner, Maria Isabel Melaragno

Institutions: Universidade Federal de São Paulo, Universidade Estadual de Campinas (UNICAMP), Universidade de São Paulo, Children's Hospital of Philadelphia, University of Pennsylvania, Faculdade de Medicina do ABC

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W1976187274

FWCI: 1.31

Cites: 33

Cited by: 18

Related to: 10