A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett‐like features

Filomena Tiziana Papa, Maria Antonietta Mencarelli, Rossella Caselli, +12

American Journal of Medical Genetics Part A

Turner's syndrome in Italy: familial characteristics, neonatal data, standards for birth weight and for height and weight from infancy to adulthood

Sergio Bernasconi, Daniela Larizza, L Benso, +37

Acta Paediatrica

Efficacy and safety of topiramate in infants according to epilepsy syndromes

Salvatore Grosso, Daniela Galimberti, M. A. Farnetani, +8

Seizure

PediatricsNeuropharmacologyNewborn MedicineNeurologyEpilepsy Syndromes +1

Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia

Salvatore Grosso, M. A. Farnetani, Rosario Berardi, +6

American Journal of Medical Genetics Part A

Ethylmalonic encephalopathy

Salvatore Grosso, Rosa Mostardini, M. A. Farnetani, +6

Journal of Neurology

Electroencephalographic and Epileptic Patterns in X Chromosome Anomalies

Salvatore Grosso, Mariangela Farnetani, Rosanna Maria Di Bartolo, +8

Journal of Clinical Neurophysiology

Mendelian DisorderCytogeneticsNeuroanatomyGeneticsMedicine +11

GM2 gangliosidosis variant B1

Salvatore Grosso, M. A. Farnetani, Rosario Berardi, +5

Journal of Neurology

G Protein-coupled ReceptorGeneticsPathogenesisPathologyMolecular Genetics +1

Facial hemangioma and malformation of the cortical development: A broadening of the PHACE spectrum or a new entity?

Salvatore Grosso, Lucrezia De Cosmo, E. Bonifazi, +7

American Journal of Medical Genetics Part A

Familial Axenfeld‐Rieger anomaly, cardiac malformations, and sensorineural hearing loss: A provisionally unique genetic syndrome?

Salvatore Grosso, M. A. Farnetani, Rosario Berardi, +4

American Journal of Medical Genetics

Transient neonatal hypothyroidism after gestational exposure to amiodarone: A follow-up of two cases

Salvatore Grosso, Rosario Berardi, M. Cioni, +1

Journal of Endocrinological Investigation

Transient Neonatal HypothyroidismThyroid DiseaseThyroid DisordersGestational ExposureThyroid Hormone +1