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American Journal of Medical Genetics. Part A
|
October 24, 2014
Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: clinical report and review of the literature
Chiara Castronovo, Milena Crippa, Ilaria Bestetti, et al.
American Journal of Medical Genetics. Part A
|
September 21, 2020
Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation
Elena Cacciatori, Mara Lelii, Silvia Russo, et al.
Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology
|
June 26, 2019
Comparison of Quantitative Analysis of Methylated Alleles Real-Time PCR and Methylation-Specific MLPA for Molecular Diagnosis of Beckwith-Wiedemann Syndrome
Massimiliano Bergallo, Ilaria Galliano, Paola Montanari, et al.
European Journal of Medical Genetics
|
January 15, 2013
Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype
Cristina Gervasini, Ilaria Parenti, Chiara Picinelli, et al.
Biomed Research International
|
March 14, 2013
The steady-state serum concentration of genistein aglycone is affected by formulation: a bioequivalence study of bone products
Alessandra Bitto, Bruce P Burnett, Francesca Polito, et al.
Neurogenetics
|
April 7, 2007
Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes
Maria Teresa Bonati, Silvia Russo, Palma Finelli, et al.
American Journal of Medical Genetics. Part A
|
September 22, 2018
Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort
Valentina Decimi, Barbara Parma, Roberto Panceri, et al.
American Journal of Medical Genetics. Part A
|
May 23, 2013
Germline mosaicism in Cornelia de Lange syndrome: dilemmas and risk figures
Milena Mariani, Laura R Bettini, Anna Cereda, et al.
The Journal of Clinical Endocrinology and Metabolism
|
March 17, 2018
Clinical Manifestations and Metabolic Outcomes of Seven Adults With Silver-Russell Syndrome
Giuseppa Patti, Marta Giaccardi, Valeria Capra, et al.
Italian Journal of Pediatrics
|
July 29, 2022
Congenital hypothyroidism after newborn screening program reorganization in the Apulia region
Simonetta Simonetti, Gabriele D'Amato, Benedetta Esposito, et al.
Page
of 16
Search research articles
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Showing results (51-60 of 159) with videos related to
Sort By:
Page
of 16
American Journal of Medical Genetics. Part A
|
October 24, 2014
Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: clinical report and review of the literature
Chiara Castronovo, Milena Crippa, Ilaria Bestetti, et al.
American Journal of Medical Genetics. Part A
|
September 21, 2020
Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation
Elena Cacciatori, Mara Lelii, Silvia Russo, et al.
Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology
|
June 26, 2019
Comparison of Quantitative Analysis of Methylated Alleles Real-Time PCR and Methylation-Specific MLPA for Molecular Diagnosis of Beckwith-Wiedemann Syndrome
Massimiliano Bergallo, Ilaria Galliano, Paola Montanari, et al.
European Journal of Medical Genetics
|
January 15, 2013
Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype
Cristina Gervasini, Ilaria Parenti, Chiara Picinelli, et al.
Biomed Research International
|
March 14, 2013
The steady-state serum concentration of genistein aglycone is affected by formulation: a bioequivalence study of bone products
Alessandra Bitto, Bruce P Burnett, Francesca Polito, et al.
Neurogenetics
|
April 7, 2007
Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes
Maria Teresa Bonati, Silvia Russo, Palma Finelli, et al.
American Journal of Medical Genetics. Part A
|
September 22, 2018
Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort
Valentina Decimi, Barbara Parma, Roberto Panceri, et al.
American Journal of Medical Genetics. Part A
|
May 23, 2013
Germline mosaicism in Cornelia de Lange syndrome: dilemmas and risk figures
Milena Mariani, Laura R Bettini, Anna Cereda, et al.
The Journal of Clinical Endocrinology and Metabolism
|
March 17, 2018
Clinical Manifestations and Metabolic Outcomes of Seven Adults With Silver-Russell Syndrome
Giuseppa Patti, Marta Giaccardi, Valeria Capra, et al.
Italian Journal of Pediatrics
|
July 29, 2022
Congenital hypothyroidism after newborn screening program reorganization in the Apulia region
Simonetta Simonetti, Gabriele D'Amato, Benedetta Esposito, et al.
Page
of 16