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Alessandra Ferrarini

Showing results (31-40 of 39) with videos related to

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Pathogens (Basel, Switzerland)|January 6, 2021
Atypical Bacterial Pathogens and Small-Vessel Leukocytoclastic Vasculitis of the Skin in Children: Systematic Literature ReviewCéline Betti, Pietro Camozzi, Viola Gennaro, et al.
Familial Cancer|January 13, 2011
Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53Alessandra Ferrarini, Agnes Auteri-Kaczmarek, Alessia Pica, et al.
European Journal of Human Genetics : EJHG|July 9, 2004
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndromeMarcella Zollino, Rosetta Lecce, Angelo Selicorni, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrumCristina Gervasini, Silvia Russo, Anna Cereda, et al.
Clinical Genetics|December 28, 2020
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?Diego Lopergolo, Flavia Privitera, Giuseppe Castello, et al.
Journal of Medical Genetics|August 22, 2020
De novo missense variants in <i>LMBRD2</i> are associated with developmental and motor delays, brain structure abnormalities and dysmorphic featuresAlka Malhotra, Alban Ziegler, Li Shu, et al.
European Journal of Medical Genetics|March 3, 2009
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndromeNathalie Van der Aa, Liesbeth Rooms, Geert Vandeweyer, et al.
American Journal of Human Genetics|May 14, 2019
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and EpilepsyAnne H O'Donnell-Luria, Lynn S Pais, Víctor Faundes, et al.
Nature|September 2, 2011
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locusSébastien Jacquemont, Alexandre Reymond, Flore Zufferey, et al.
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Showing results (31-40 of 39) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 39 results.
Pathogens (Basel, Switzerland)|January 6, 2021
Atypical Bacterial Pathogens and Small-Vessel Leukocytoclastic Vasculitis of the Skin in Children: Systematic Literature ReviewCéline Betti, Pietro Camozzi, Viola Gennaro, et al.
Familial Cancer|January 13, 2011
Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53Alessandra Ferrarini, Agnes Auteri-Kaczmarek, Alessia Pica, et al.
European Journal of Human Genetics : EJHG|July 9, 2004
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndromeMarcella Zollino, Rosetta Lecce, Angelo Selicorni, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrumCristina Gervasini, Silvia Russo, Anna Cereda, et al.
Clinical Genetics|December 28, 2020
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?Diego Lopergolo, Flavia Privitera, Giuseppe Castello, et al.
Journal of Medical Genetics|August 22, 2020
De novo missense variants in <i>LMBRD2</i> are associated with developmental and motor delays, brain structure abnormalities and dysmorphic featuresAlka Malhotra, Alban Ziegler, Li Shu, et al.
European Journal of Medical Genetics|March 3, 2009
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndromeNathalie Van der Aa, Liesbeth Rooms, Geert Vandeweyer, et al.
American Journal of Human Genetics|May 14, 2019
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and EpilepsyAnne H O'Donnell-Luria, Lynn S Pais, Víctor Faundes, et al.
Nature|September 2, 2011
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locusSébastien Jacquemont, Alexandre Reymond, Flore Zufferey, et al.
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