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Lidia Larizza

Showing results (141-150 of 150) with videos related to

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Human Genetics|January 26, 2017
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypesIlaria Parenti, María E Teresa-Rodrigo, Jelena Pozojevic, et al.
Frontiers in Genetics|November 18, 2024
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotypeCristina Lucia-Campos, Ilaria Parenti, Ana Latorre-Pellicer, et al.
International Journal of Molecular Sciences|June 10, 2022
Expanding the Molecular Spectrum of <i>ANKRD11</i> Gene Defects in 33 Patients with a Clinical Presentation of KBG SyndromeIlaria Bestetti, Milena Crippa, Alessandra Sironi, et al.
European Journal of Human Genetics : EJHG|October 29, 2015
Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counselingThomas Eggermann, Frédéric Brioude, Silvia Russo, et al.
Molecular Genetics & Genomic Medicine|December 19, 2019
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rateIlaria Catusi, Maria Paola Recalcati, Ilaria Bestetti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 23, 2005
Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: cooperative study of 19 Italian laboratoriesLeda Dalprà, Daniela Giardino, Palma Finelli, et al.
Prenatal Diagnosis|February 28, 2009
De novo balanced chromosome rearrangements in prenatal diagnosisDaniela Giardino, Cecilia Corti, Lucia Ballarati, et al.
American Journal of Medical Genetics. Part A|September 21, 2016
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutationsPatricia Fergelot, Martine Van Belzen, Julien Van Gils, et al.
Journal of Medical Genetics|March 12, 2024
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statementDidier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, et al.
Human Mutation|February 7, 2015
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypesMaría Concepción Gil-Rodríguez, Matthew A Deardorff, Morad Ansari, et al.
Pageof 15

Showing results (141-150 of 150) with videos related to

Sort By:
Pageof 15
You have reached the last page of results.This site can display upto 150 results.
Human Genetics|January 26, 2017
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypesIlaria Parenti, María E Teresa-Rodrigo, Jelena Pozojevic, et al.
Frontiers in Genetics|November 18, 2024
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotypeCristina Lucia-Campos, Ilaria Parenti, Ana Latorre-Pellicer, et al.
International Journal of Molecular Sciences|June 10, 2022
Expanding the Molecular Spectrum of <i>ANKRD11</i> Gene Defects in 33 Patients with a Clinical Presentation of KBG SyndromeIlaria Bestetti, Milena Crippa, Alessandra Sironi, et al.
European Journal of Human Genetics : EJHG|October 29, 2015
Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counselingThomas Eggermann, Frédéric Brioude, Silvia Russo, et al.
Molecular Genetics & Genomic Medicine|December 19, 2019
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rateIlaria Catusi, Maria Paola Recalcati, Ilaria Bestetti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 23, 2005
Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: cooperative study of 19 Italian laboratoriesLeda Dalprà, Daniela Giardino, Palma Finelli, et al.
Prenatal Diagnosis|February 28, 2009
De novo balanced chromosome rearrangements in prenatal diagnosisDaniela Giardino, Cecilia Corti, Lucia Ballarati, et al.
American Journal of Medical Genetics. Part A|September 21, 2016
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutationsPatricia Fergelot, Martine Van Belzen, Julien Van Gils, et al.
Journal of Medical Genetics|March 12, 2024
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statementDidier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, et al.
Human Mutation|February 7, 2015
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypesMaría Concepción Gil-Rodríguez, Matthew A Deardorff, Morad Ansari, et al.
Pageof 15