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Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|December 13, 2024
Semantic behavioral variant frontotemporal dementia and semantic dementia associated with TARDBP mutationsGiuseppe Piga, Laura Fadda, Giuseppe Borghero, et al.
Pediatric Nephrology (Berlin, Germany)|July 30, 2009
Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneityElena Andreucci, Benedetta Bianchi, Ilaria Carboni, et al.
BMC Medical Genomics|January 22, 2021
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case reportFrancesca Peluso, Viviana Palazzo, Giuseppe Indolfi, et al.
Frontiers in Pediatrics|September 27, 2021
PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With AlpelisibAngelica Pagliazzi, Teresa Oranges, Giovanna Traficante, et al.
American Journal of Medical Genetics. Part A|January 26, 2005
8.5 Mb deletion at distal 5p in a male ascertained for azoospermiaElena Rossi, Manuela de Gregori, Maria Grazia Patricelli, et al.
Hormones (Athens, Greece)|July 11, 2016
Bone mineral status and metabolism in patients with Williams-Beuren syndromeStefano Stagi, Cristina Manoni, Perla Scalini, et al.
Human Genetics|September 7, 2002
Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)Giorgio Gimelli, Sabrina Giglio, Orsetta Zuffardi, et al.
International Journal of Endocrinology|July 15, 2016
Bone Mineral Status in Children and Adolescents with Klinefelter SyndromeStefano Stagi, Mariarosaria Di Tommaso, Cristina Manoni, et al.
European Journal of Medical Genetics|April 18, 2017
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 geneSara Bargiacchi, Matteo Della Monica, Roberto Biagiotti, et al.
Genes|October 23, 2021
Differential Diagnosis between Marfan Syndrome and Loeys-Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2Stefano Nistri, Rosina De Cario, Elena Sticchi, et al.
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