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Human Mutation|October 21, 2010
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tractStefania Gimelli, Gianluca Caridi, Silvana Beri, et al.European Journal of Human Genetics : EJHG|July 24, 2008
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotypeMaria Clara Bonaglia, Roberto Ciccone, Giorgio Gimelli, et al.Plos One|June 22, 2012
De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)sElena Rossi, Roberto Giorda, Maria Clara Bonaglia, et al.American Journal of Human Genetics|June 12, 2002
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocationSabrina Giglio, Vladimiro Calvari, Giuliana Gregato, et al.Scientific Reports|August 3, 2021
Hidden pandemic: COVID-19-related stress, SLC6A4 methylation, and infants' temperament at 3 monthsLivio Provenzi, Fabiana Mambretti, Marco Villa, et al.Frontiers in Psychiatry|August 1, 2022
Is Brain-Derived Neurotropic Factor Methylation Involved in the Association Between Prenatal Stress and Maternal Postnatal Anxiety During the COVID-19 Pandemic?Livio Provenzi, Marco Villa, Fabiana Mambretti, et al.BMJ Open|January 1, 2021
Measuring the Outcomes of Maternal COVID-19-related Prenatal Exposure (MOM-COPE): study protocol for a multicentric longitudinal projectLivio Provenzi, Serena Grumi, Roberto Giorda, et al.International Journal of Methods in Psychiatric Research|May 9, 2006
The Italian preadolescent mental health project (PrISMA): rationale and methodsAlessandra Frigerio, Laura Vanzin, Valentina Pastore, et al.Journal of Medical Genetics|October 26, 2010
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disabilityAlistair T Pagnamenta, Hameed Khan, Susan Walker, et al.Epileptic Disorders : International Epilepsy Journal with Videotape|September 20, 2011
Definition of the neurological phenotype associated with dup (X)(p11.22-p11.23)Marcella Broli, Francesca Bisulli, Massimo Mastrangelo, et al.Pageof 13