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Hormones (Athens, Greece)|November 18, 2014
A SOX3 (Xq26.3-27.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: a long-term follow-up and literature reviewStefano Stagi, Elisabetta Lapi, Marilena Pantaleo, et al.
Clinical Case Reports|August 15, 2015
Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusionGiovanna Traficante, Roberto Biagiotti, Elena Andreucci, et al.
Pediatric Reports|December 27, 2024
PPP2R5D-Related Neurodevelopmental Disorder and Multiple Haemangiomas: A Novel Phenotypic Trait?Francesco Comisi, Consolata Soddu, Francesco Lai, et al.
American Journal of Medical Genetics. Part A|April 13, 2011
In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in malesElena Parrini, Isabel Llano Rivas, Joaquin Fernandez Toral, et al.
International Archives of Allergy and Immunology|January 31, 2012
Multiorgan infiltration by CD8+ T cells and 1p;16p translocation in a patient with hypogammaglobulinemia and a reduced number of B cellsAlessandra Vultaggio, Andrea Matucci, Mario Milco D'Elios, et al.
Molecular Genetics & Genomic Medicine|August 4, 2020
Genetic counseling during COVID-19 pandemic: Tuscany experienceAngelica Pagliazzi, Giorgia Mancano, Giulia Forzano, et al.
Molecular Genetics & Genomic Medicine|June 20, 2020
Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutationEvelise Brizola, Maria Gnoli, Morena Tremosini, et al.
Biomed Research International|September 27, 2018
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical PhenotypeElena Sticchi, Rosina De Cario, Alberto Magi, et al.
BMC Endocrine Disorders|January 9, 2014
Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axisStefano Stagi, Elisabetta Lapi, Salvatore Seminara, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|April 15, 2009
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genesIlaria Carboni, Elena Andreucci, Maria R Caruso, et al.
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