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Children (Basel, Switzerland)|June 24, 2022
22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart DefectsCarolina Putotto, Flaminia Pugnaloni, Marta Unolt, et al.Hormone Research in Paediatrics|July 4, 2024
Noonan Syndrome Growth Charts and Genotypes: 15-Year Longitudinal Single-Centre StudyMarco Cappa, Francesco d'Aniello, Maria Cristina Digilio, et al.Annals of Neurology|July 12, 2002
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34Enza Maria Valente, Francesco Brancati, Viviana Caputo, et al.Human Molecular Genetics|October 7, 2005
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonismLaura Silvestri, Viviana Caputo, Emanuele Bellacchio, et al.American Journal of Medical Genetics. Part A|January 30, 2007
Duplication 18q21.31-q22.2Caterina Ceccarini, Lorenzo Sinibaldi, Laura Bernardini, et al.American Journal of Medical Genetics. Part A|July 17, 2010
TBX2 gene duplication associated with complex heart defect and skeletal malformationsFrancesca Clementina Radio, Laura Bernardini, Sara Loddo, et al.American Journal of Medical Genetics. Part A|July 17, 2010
X chromosome monosomy restricted to the left ventricle is not a major cause of isolated hypoplastic left heartLaura Bernardini, Maria Grazia Giuffrida, Paola Francalanci, et al.European Journal of Pediatrics|May 14, 2011
Infantile cortical hyperostosis and COL1A1 mutation in four generationsPaola Cerruti-Mainardi, Giacomo Venturi, Marianna Spunton, et al.Nature Genetics|December 5, 2006
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndromeMarco Tartaglia, Len A Pennacchio, Chen Zhao, et al.American Journal of Medical Genetics. Part A|February 26, 2013
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndromeKatalin Szakszon, Carmelo Salpietro, Naseebullah Kakar, et al.Pageof 53