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Nature Genetics|July 1, 1993
A high resolution deletion map of human chromosome Xp22L Schaefer, G B Ferrero, A Grillo, et al.Human Molecular Genetics|April 1, 1994
A gene from the Xp22.3 region shares homology with voltage-gated chloride channelsM A van Slegtenhorst, M T Bassi, G Borsani, et al.Human Molecular Genetics|October 1, 1995
An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3G B Ferrero, B Franco, E J Roth, et al.Nature Genetics|November 4, 2000
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defectsR N Bamford, E Roessler, R D Burdine, et al.Journal of Medical Genetics|June 17, 2003
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13N V Morgan, C Bacchelli, P Gissen, et al.Clinical Genetics|February 10, 2016
Fetal growth patterns in Beckwith-Wiedemann syndromeA Mussa, S Russo, A de Crescenzo, et al.American Journal of Medical Genetics. Part A|March 3, 2005
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowthM Cecconi, F Forzano, D Milani, et al.AJNR. American Journal of Neuroradiology|June 30, 2022
Brain Abnormalities in Patients with Germline Variants in <i>H3F3</i>: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain TumorsC A P F Alves, O Sherbini, F D'Arco, et al.Clinical Genetics|March 16, 2017
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genesE Di Gregorio, E Riberi, E F Belligni, et al.Journal of Medical Genetics|September 4, 2007
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patientsM De Gregori, R Ciccone, P Magini, et al.Pageof 3