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American Journal of Medical Genetics. Part A|May 16, 2003
Subcortical band heterotopia with simplified gyral pattern and syndactylyFederico Sicca, Margherita Silengo, Elena Parrini, et al.
European Journal of Pediatrics|April 25, 2003
Hair anomalies as a sign of mitochondrial diseaseMargherita Silengo, Mariella Valenzise, Marco Spada, et al.
Italian Journal of Pediatrics|June 4, 2009
Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disabilityElga F Belligni, Elisa Biamino, Cristina Molinatto, et al.
Clinical Laboratory|May 20, 2026
GDF15 as a Marker of Ineffective Erythropoiesis and Erythroid Expansion in Thalassemia: a Clinical PerspectiveAndrea Piolatto, Nicolò Tesio, Martina Teti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2014
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disabilityIlaria Gandin, Flavio Faletra, Francesca Faletra, et al.
Plos Genetics|November 22, 2011
Relative burden of large CNVs on a range of neurodevelopmental phenotypesSanthosh Girirajan, Zoran Brkanac, Bradley P Coe, et al.
Cytogenetic and Genome Research|December 15, 2015
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/DuplicationsEleonora Di Gregorio, Giorgia Gai, Giovanni Botta, et al.
Human Mutation|March 3, 2019
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlationsDiana Carli, Elisa Giorgio, Francesca Pantaleoni, et al.
American Journal of Medical Genetics. Part A|May 6, 2017
Nomenclature and definition in asymmetric regional body overgrowthJennifer M Kalish, Leslie G Biesecker, Frederic Brioude, et al.
American Journal of Human Genetics|August 8, 2024
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germlineKatherine A Wood, R Spencer Tong, Marialetizia Motta, et al.
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