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Journal of the American Academy of Dermatology|February 1, 1993
Variability in the Michelin tire syndrome. A child with multiple anomalies, smooth muscle hamartoma, and familial paracentric inversion of chromosome 7qR E Schnur, A J Herzberg, N Spinner, et al.
American Journal of Medical Genetics|February 22, 2002
Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocolKaren W Gripp, Charles I Scott, Linda Nicholson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2001
Communication issues in 22q11.2 deletion syndrome: children at riskC B Solot, M Gerdes, R E Kirschner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 25, 2025
Optical mapping in Black genomes: Distinct LCR22 structures and 22q11.2 deletion syndrome mechanismsSteven Pastor, Oanh Tran, Ryan Lapointe, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 21, 2016
Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencingElizabeth J Bhoj, Zhenming Yu, Qiaoning Guan, et al.
American Journal of Medical Genetics. Part A|July 29, 2018
Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndromeErica Schindewolf, Nahla Khalek, Mark P Johnson, et al.
Nature Genetics|June 16, 1999
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephalyD E Wallis, E Roessler, U Hehr, et al.
Molecular Genetics & Genomic Medicine|November 28, 2017
Pediatric healthcare costs for patients with 22q11.2 deletion syndromePeter Benn, Sushma Iyengar, Terrence Blaine Crowley, et al.
American Journal of Medical Genetics. Part A|September 30, 2016
Congenital diaphragmatic hernia in 22q11.2 deletion syndromeMarta Unolt, Lauren DiCairano, Kathryn Schlechtweg, et al.
American Journal of Medical Genetics|January 1, 1981
Deletions of different segments of the long arm of chromosome 4J A Mitchell, S Packman, W D Loughman, et al.
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