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Ilaria Longo

Showing results (21-30 of 39) with videos related to

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American Journal of Medical Genetics. Part A|July 16, 2008
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like featuresFilomena Tiziana Papa, Maria Antonietta Mencarelli, Rossella Caselli, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 13, 2005
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five familiesIlaria Longo, Elisa Scala, Francesca Mari, et al.
American Journal of Human Genetics|June 24, 2008
FOXG1 is responsible for the congenital variant of Rett syndromeFrancesca Ariani, Giuseppe Hayek, Dalila Rondinella, et al.
Human Mutation|November 4, 2017
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport SyndromeSergio Daga, Margherita Baldassarri, Caterina Lo Rizzo, et al.
European Journal of Medical Genetics|July 29, 2008
Private inherited microdeletion/microduplications: implications in clinical practiceMaria Antonietta Mencarelli, Eleni Katzaki, Filomena Tiziana Papa, et al.
Human Molecular Genetics|May 27, 2005
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndromeFrancesca Mari, Sara Azimonti, Ilaria Bertani, et al.
Journal of Human Genetics|November 9, 2007
Clinical and molecular characterization of Italian patients affected by Cohen syndromeEleni Katzaki, Chiara Pescucci, Vera Uliana, et al.
Journal of Human Genetics|February 12, 2020
Erratum to: Clinical and molecular characterization of Italian patients affected by Cohen syndromeEleni Katzaki, Chiara Pescucci, Vera Uliana, et al.
Nature Genetics|March 13, 2002
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardationIlaria Meloni, Maddalena Muscettola, Martine Raynaud, et al.
Kidney International|May 25, 2002
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndromeIlaria Longo, Paola Porcedda, Francesca Mari, et al.
Pageof 4

Showing results (21-30 of 39) with videos related to

Sort By:
Pageof 4
American Journal of Medical Genetics. Part A|July 16, 2008
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like featuresFilomena Tiziana Papa, Maria Antonietta Mencarelli, Rossella Caselli, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 13, 2005
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five familiesIlaria Longo, Elisa Scala, Francesca Mari, et al.
American Journal of Human Genetics|June 24, 2008
FOXG1 is responsible for the congenital variant of Rett syndromeFrancesca Ariani, Giuseppe Hayek, Dalila Rondinella, et al.
Human Mutation|November 4, 2017
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport SyndromeSergio Daga, Margherita Baldassarri, Caterina Lo Rizzo, et al.
European Journal of Medical Genetics|July 29, 2008
Private inherited microdeletion/microduplications: implications in clinical practiceMaria Antonietta Mencarelli, Eleni Katzaki, Filomena Tiziana Papa, et al.
Human Molecular Genetics|May 27, 2005
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndromeFrancesca Mari, Sara Azimonti, Ilaria Bertani, et al.
Journal of Human Genetics|November 9, 2007
Clinical and molecular characterization of Italian patients affected by Cohen syndromeEleni Katzaki, Chiara Pescucci, Vera Uliana, et al.
Journal of Human Genetics|February 12, 2020
Erratum to: Clinical and molecular characterization of Italian patients affected by Cohen syndromeEleni Katzaki, Chiara Pescucci, Vera Uliana, et al.
Nature Genetics|March 13, 2002
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardationIlaria Meloni, Maddalena Muscettola, Martine Raynaud, et al.
Kidney International|May 25, 2002
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndromeIlaria Longo, Paola Porcedda, Francesca Mari, et al.
Pageof 4