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Genes|December 24, 2021
Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double DiagnosisElisabetta Tabolacci, Maria Grazia Pomponi, Laura Remondini, et al.
European Journal of Human Genetics : EJHG|July 16, 2009
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCRFrancesco Danilo Tiziano, Anna Maria Pinto, Stefania Fiori, et al.
Orphanet Journal of Rare Diseases|April 13, 2017
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task forceBerardo Rinaldi, Alessandro Vaisfeld, Sergio Amarri, et al.
Cytotherapy|April 3, 2023
Impact of soluble tumor necrosis factor-related apoptosis-inducing ligand released by engineered adipose mesenchymal stromal cells on white blood cellsGiulia Casari, Massimiliano Dall'Ora, Aurora Melandri, et al.
American Journal of Medical Genetics. Part A|February 8, 2024
Personal journeys to and in human genetics and dysmorphologyCharles E Schwartz, Arthur S Aylsworth, Judith Allanson, et al.
Genomics|September 15, 2007
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpointsCristina Gervasini, Paola Castronovo, Angela Bentivegna, et al.
American Journal of Medical Genetics. Part A|July 19, 2012
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasiaLivia Garavelli, Giancarlo Gargano, Graziella Simonte, et al.
Journal of Ophthalmology|November 5, 2020
Limited Vitrectomy versus Complete Vitrectomy for Epiretinal Membranes: A Comparative Multicenter TrialMatteo Forlini, Purva Date, Domenico D'Eliseo, et al.
Lung Cancer (Amsterdam, Netherlands)|August 16, 2025
CAR-T for Lung Cancers: Challenges and InnovationsLucia Trudu, Giulia Rovesti, Giovanni Neri, et al.
American Journal of Medical Genetics. Part A|November 1, 2008
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 geneJohn M Graham, Jeannie Visootsak, Elisabeth Dykens, et al.
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