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American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|March 21, 2024
Clinical Significance of the Cystic Phenotype in Alport SyndromeLetizia Zeni, Federica Mescia, Diego Toso, et al.
Medicina (Kaunas, Lithuania)|April 3, 2019
Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair SyndromesLaura Cristina Gironi, Francesca Zottarelli, Gianfranco Savoldi, et al.
Ophthalmic Genetics|July 10, 2013
Familial exudative vitreoretinopathy caused by a homozygous mutation in TSPAN12 in a cystic fibrosis infantMarco Savarese, Elide Spinelli, Federico Gandolfo, et al.
American Journal of Medical Genetics. Part A|August 17, 2013
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1RGianfranco Savoldi, Claudia Izzi, Marino Signorelli, et al.
Kidney International Reports|April 20, 2026
Sodium-Glucose Cotransporter-2-inhibitors in Adult Patients With Alport SyndromeDiego Toso, Valeria Cinquina, Laura Econimo, et al.
Respiration; International Review of Thoracic Diseases|April 9, 2011
Population genetic screening for alpha1-antitrypsin deficiency in a high-prevalence areaLuciano Corda, Daniela Medicina, Giuseppe Emanuele La Piana, et al.
American Journal of Medical Genetics. Part A|May 14, 2011
Clinical and molecular description of a Wilms tumor in a patient with tuberous sclerosis complexFilippo Spreafico, Lucia Dora Notarangelo, Richard Fabian Schumacher, et al.
Blood|February 22, 2007
G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganismsMarta Donini, Stefania Fontana, Gianfranco Savoldi, et al.
The Journal of Experimental Medicine|January 11, 2012
A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIPGaetana Lanzi, Daniele Moratto, Donatella Vairo, et al.
Journal of the American Society of Nephrology : JASN|March 30, 2023
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic DiagnosisDina F Ahram, Tze Y Lim, Juntao Ke, et al.
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