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European Journal of Medical Genetics|November 22, 2008
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndromeValeria Capra, Patrizia De Marco, Elisa Merello, et al.
Genes|October 17, 2019
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6Stefano Giuseppe Caraffi, Ilenia Maini, Ivan Ivanovski, et al.
Nucleic Acids Research|March 4, 2021
Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor intronsAnouk M Olthof, Alisa K White, Stephen Mieruszynski, et al.
Human Molecular Genetics|February 5, 2008
Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumourFlavia Cerrato, Angela Sparago, Gaetano Verde, et al.
Italian Journal of Pediatrics|June 30, 2009
Prevalence of hypospadias in Italy according to severity, gestational age and birthweight: an epidemiological studyPaolo Ghirri, Rosa T Scaramuzzo, Silvano Bertelloni, et al.
Human Genetics|March 26, 2015
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoireDaniela Rusconi, Gloria Negri, Patrizia Colapietro, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteriaGiuseppe Marangi, Stefania Ricciardi, Daniela Orteschi, et al.
American Journal of Human Genetics|May 21, 2013
FAM111A mutations result in hypoparathyroidism and impaired skeletal developmentSheila Unger, Maria W Górna, Antony Le Béchec, et al.
European Journal of Medical Genetics|March 21, 2015
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndromeSaskia M Maas, Adam C Shaw, Hennie Bikker, et al.
European Journal of Human Genetics : EJHG|February 25, 2010
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patientsKristien P Hoornaert, Inge Vereecke, Chantal Dewinter, et al.
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