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Frontiers in Neurology
|
December 13, 2018
Recurrence and Familial Inheritance of Intronic <i>NIPBL</i> Pathogenic Variant Associated With Mild CdLS
Maura Masciadri, Anna Ficcadenti, Donatella Milani, et al.
Acta Obstetricia Et Gynecologica Scandinavica
|
December 8, 2009
Neutrophil gelatinase-associated lipocalin serum evaluation through normal pregnancy and in pregnancies complicated by preeclampsia
Rosario D'Anna, Giovanni Baviera, Domenico Giordano, et al.
Prenatal Diagnosis
|
June 21, 2023
Prenatal testing for imprinting disorders: A laboratory perspective
Jasmin Beygo, Silvia Russo, Pierpaola Tannorella, et al.
International Journal of Molecular Sciences
|
November 14, 2020
Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome
Ilaria Catusi, Maria Teresa Bonati, Ester Mainini, et al.
European Journal of Medical Genetics
|
January 3, 2012
Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia
Lucia Ballarati, Anna Cereda, Rossella Caselli, et al.
Prenatal Diagnosis
|
December 23, 2004
Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism
Maria Rosaria D'Apice, Stefano Gambardella, Silvia Russo, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology
|
August 20, 2009
Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome
Paola Castronovo, Cristina Gervasini, Anna Cereda, et al.
American Journal of Medical Genetics
|
September 5, 2002
Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlation
Daniela Giardino, Palma Finelli, Silvia Russo, et al.
Journal of Child Neurology
|
September 26, 2013
Think about it: FMR1 gene mosaicism
Francesca Andrea Bonarrigo, Silvia Russo, Paola Vizziello, et al.
Children (Basel, Switzerland)
|
December 24, 2021
Guided Growth in Leg Length Discrepancy in Beckwith-Wiedemann Syndrome: A Consecutive Case Series
Maurizio De Pellegrin, Lorenzo Brogioni, Guy Laskow, et al.
Page
of 16
Search research articles
Search
Showing results (31-40 of 159) with videos related to
Sort By:
Page
of 16
Frontiers in Neurology
|
December 13, 2018
Recurrence and Familial Inheritance of Intronic <i>NIPBL</i> Pathogenic Variant Associated With Mild CdLS
Maura Masciadri, Anna Ficcadenti, Donatella Milani, et al.
Acta Obstetricia Et Gynecologica Scandinavica
|
December 8, 2009
Neutrophil gelatinase-associated lipocalin serum evaluation through normal pregnancy and in pregnancies complicated by preeclampsia
Rosario D'Anna, Giovanni Baviera, Domenico Giordano, et al.
Prenatal Diagnosis
|
June 21, 2023
Prenatal testing for imprinting disorders: A laboratory perspective
Jasmin Beygo, Silvia Russo, Pierpaola Tannorella, et al.
International Journal of Molecular Sciences
|
November 14, 2020
Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome
Ilaria Catusi, Maria Teresa Bonati, Ester Mainini, et al.
European Journal of Medical Genetics
|
January 3, 2012
Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia
Lucia Ballarati, Anna Cereda, Rossella Caselli, et al.
Prenatal Diagnosis
|
December 23, 2004
Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism
Maria Rosaria D'Apice, Stefano Gambardella, Silvia Russo, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology
|
August 20, 2009
Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome
Paola Castronovo, Cristina Gervasini, Anna Cereda, et al.
American Journal of Medical Genetics
|
September 5, 2002
Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlation
Daniela Giardino, Palma Finelli, Silvia Russo, et al.
Journal of Child Neurology
|
September 26, 2013
Think about it: FMR1 gene mosaicism
Francesca Andrea Bonarrigo, Silvia Russo, Paola Vizziello, et al.
Children (Basel, Switzerland)
|
December 24, 2021
Guided Growth in Leg Length Discrepancy in Beckwith-Wiedemann Syndrome: A Consecutive Case Series
Maurizio De Pellegrin, Lorenzo Brogioni, Guy Laskow, et al.
Page
of 16