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Teresa Mattina

Showing results (1-10 of 54) with videos related to

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Orphanet Journal of Rare Diseases|March 10, 2009
Jacobsen syndromeTeresa Mattina, Concetta Simona Perrotta, Paul Grossfeld
Journal of Orthopaedic Case Reports|October 21, 2017
Early Motor Delay: An Outstanding, Initial Sign of Osteogenesis Imperfecta Type 1Vito Pavone, Teresa Mattina, Piero Pavone, et al.
European Journal of Medical Genetics|September 24, 2005
Narrowing the deleted region associated with the 15q21 syndromeTiziano Pramparo, Teresa Mattina, Stefania Gimelli, et al.
Frontiers in Immunology|August 10, 2019
Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic HypothesisEdoardo Errichiello, Efthimios Dardiotis, Fiorenza Mannino, et al.
Gene|June 5, 2004
Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromesSimona D'Antoni, Teresa Mattina, Patrizia Di Mare, et al.
Frontiers in Genetics|October 9, 2023
Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variantsMaria Clara Bonaglia, Eliana Salvo, Manuela Sironi, et al.
American Journal of Medical Genetics. Part A|July 22, 2004
The 11q terminal deletion disorder: a prospective study of 110 casesPaul D Grossfeld, Teresa Mattina, Zona Lai, et al.
Molecular Syndromology|June 8, 2017
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian TranslocationVeronica Bertini, Antonella Fogli, Rossella Bruno, et al.
American Journal of Medical Genetics. Part A|April 14, 2017
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disordersRita Barone, Marco Fichera, Mariaclara De Grandi, et al.
Journal of Child Neurology|March 29, 2003
Mental retardation and early onset of weakness in a girl with a dystrophinopathy and a large Xp21-23 deletionRaffaele Falsaperla, Giusi Romeo, Anna Sorge, et al.
Pageof 6

Showing results (1-10 of 54) with videos related to

Sort By:
Pageof 6
Orphanet Journal of Rare Diseases|March 10, 2009
Jacobsen syndromeTeresa Mattina, Concetta Simona Perrotta, Paul Grossfeld
Journal of Orthopaedic Case Reports|October 21, 2017
Early Motor Delay: An Outstanding, Initial Sign of Osteogenesis Imperfecta Type 1Vito Pavone, Teresa Mattina, Piero Pavone, et al.
European Journal of Medical Genetics|September 24, 2005
Narrowing the deleted region associated with the 15q21 syndromeTiziano Pramparo, Teresa Mattina, Stefania Gimelli, et al.
Frontiers in Immunology|August 10, 2019
Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic HypothesisEdoardo Errichiello, Efthimios Dardiotis, Fiorenza Mannino, et al.
Gene|June 5, 2004
Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromesSimona D'Antoni, Teresa Mattina, Patrizia Di Mare, et al.
Frontiers in Genetics|October 9, 2023
Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variantsMaria Clara Bonaglia, Eliana Salvo, Manuela Sironi, et al.
American Journal of Medical Genetics. Part A|July 22, 2004
The 11q terminal deletion disorder: a prospective study of 110 casesPaul D Grossfeld, Teresa Mattina, Zona Lai, et al.
Molecular Syndromology|June 8, 2017
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian TranslocationVeronica Bertini, Antonella Fogli, Rossella Bruno, et al.
American Journal of Medical Genetics. Part A|April 14, 2017
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disordersRita Barone, Marco Fichera, Mariaclara De Grandi, et al.
Journal of Child Neurology|March 29, 2003
Mental retardation and early onset of weakness in a girl with a dystrophinopathy and a large Xp21-23 deletionRaffaele Falsaperla, Giusi Romeo, Anna Sorge, et al.
Pageof 6