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F Brancati

Showing results (21-30 of 29) with videos related to

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Clinical Genetics|May 8, 2010
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndromeC Palka, R Giuliani, F Brancati, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|April 18, 2003
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystoniaF Brancati, E M Valente, M Castori, et al.
American Journal of Medical Genetics. Part A|June 18, 2009
Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothersL Giordano, A Vignoli, L Pinelli, et al.
Journal of Endocrinological Investigation|June 24, 2015
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1S Nuovo, M Passeri, E Di Benedetto, et al.
Clinical Genetics|June 21, 2008
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disordersF Brancati, L Travaglini, D Zablocka, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 28, 2003
PARK6 is a common cause of familial parkinsonismE M Valente, F Brancati, V Caputo, et al.
Neurology|January 28, 2004
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosumC Casali, E M Valente, E Bertini, et al.
Clinical Genetics|September 17, 2013
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of casesC Fallerini, L Dosa, R Tita, et al.
Human Reproduction (Oxford, England)|February 24, 2023
Improved clinical utility of preimplantation genetic testing through the integration of ploidy and common pathogenic microdeletions analysesS Caroselli, M Figliuzzi, L Picchetta, et al.
Pageof 3

Showing results (21-30 of 29) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 29 results.
Clinical Genetics|May 8, 2010
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndromeC Palka, R Giuliani, F Brancati, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|April 18, 2003
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystoniaF Brancati, E M Valente, M Castori, et al.
American Journal of Medical Genetics. Part A|June 18, 2009
Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothersL Giordano, A Vignoli, L Pinelli, et al.
Journal of Endocrinological Investigation|June 24, 2015
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1S Nuovo, M Passeri, E Di Benedetto, et al.
Clinical Genetics|June 21, 2008
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disordersF Brancati, L Travaglini, D Zablocka, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 28, 2003
PARK6 is a common cause of familial parkinsonismE M Valente, F Brancati, V Caputo, et al.
Neurology|January 28, 2004
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosumC Casali, E M Valente, E Bertini, et al.
Clinical Genetics|September 17, 2013
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of casesC Fallerini, L Dosa, R Tita, et al.
Human Reproduction (Oxford, England)|February 24, 2023
Improved clinical utility of preimplantation genetic testing through the integration of ploidy and common pathogenic microdeletions analysesS Caroselli, M Figliuzzi, L Picchetta, et al.
Pageof 3