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Molecular Syndromology|October 23, 2014
A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 MutationMarco Castori, Irene Bottillo, Daniela D'Angelantonio, et al.
Pediatric Research|August 11, 2022
Opitz syndrome: improving clinical interpretation of intronic variants in MID1 geneLucia Micale, Federica Russo, Martina Mascaro, et al.
European Journal of Human Genetics : EJHG|February 23, 2018
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorderSilvia Morlino, Marco Castori, Chiara Dordoni, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|August 3, 2017
Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutationMarco Castori, Silvia Morlino, Martin Ungelenk, et al.
Bioresource Technology|July 7, 2024
Autotrophic poly-3-hydroxybutyrate accumulation in Cupriavidus necator for sustainable bioplastic production triggered by nutrient starvationAnna Santin, Tatiana Spatola Rossi, Maria Silvia Morlino, et al.
Frontiers in Plant Science|February 2, 2024
Transcriptomic and photosynthetic analyses of Synechocystis sp. PCC6803 and Chlorogloeopsis fritschii sp. PCC6912 exposed to an M-dwarf spectrum under an anoxic atmosphereMariano Battistuzzi, Maria Silvia Morlino, Lorenzo Cocola, et al.
American Journal of Medical Genetics. Part A|August 1, 2012
Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patientsMarco Castori, Silvia Morlino, Chiara Dordoni, et al.
American Journal of Medical Genetics. Part A|December 20, 2018
LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variantSilvia Morlino, Viola Alesi, Federica Calì, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 25, 2018
Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorderSilvia Morlino, Chiara Dordoni, Isabella Sperduti, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|August 3, 2018
Exploring relationships between joint hypermobility and neurodevelopment in children (4-13 years) with hereditary connective tissue disorders and developmental coordination disorderCaterina Piedimonte, Roberta Penge, Silvia Morlino, et al.
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