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The New England Journal of Medicine
|
March 14, 2019
BRCA2 in Ovarian Development and Function
Daniela Turchetti, Roberta Zuntini, Rossella Tricarico, et al.
World Journal of Clinical Cases
|
August 19, 2014
Rare large homozygous CFTR gene deletion in an Iranian patient with cystic fibrosis
Shirin Farjadian, Mozhgan Moghtaderi, Roberta Zuntini, et al.
Biomedicines
|
January 21, 2023
Gingival Overgrowths Revealing <i>PTEN</i> Hamartoma Tumor Syndrome: Report of Novel <i>PTEN</i> Pathogenic Variants
Samuele Sutera, Daniela Francesca Giachino, Alessandra Pelle, et al.
Human Heredity
|
July 26, 2014
Consanguinity and polygenic diseases: a model for antibody deficiencies
Valentina Di Pierro, Roberta Zuntini, Caterina Cancrini, et al.
The International Journal of Biochemistry & Cell Biology
|
April 23, 2016
A unique combination of rare mitochondrial ribosomal RNA variants affects the kinetics of complex I assembly
Anna Maria Porcelli, Maria Antonietta Calvaruso, Luisa Iommarini, et al.
Genes
|
April 23, 2022
MCPH1: A Novel Case Report and a Review of the Literature
Stefano Giuseppe Caraffi, Marzia Pollazzon, Muhammad Farooq, et al.
Cytogenetic and Genome Research
|
April 2, 2019
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype
Giulia Severi, Elena Bonora, Annamaria Perri, et al.
Frontiers in Genetics
|
September 27, 2018
Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?
Roberta Zuntini, Simona Ferrari, Elena Bonora, et al.
Journal of Medical Genetics
|
September 20, 2011
Two distinct thyroid tumours in a patient with Cowden syndrome carrying both a 10q23 and a mitochondrial DNA germline deletion
Laura Maria Pradella, Roberta Zuntini, Pamela Magini, et al.
Journal of Immunology Research
|
April 29, 2016
Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes
Federica Pulvirenti, Roberta Zuntini, Cinzia Milito, et al.
Page
of 5
Search research articles
Search
Showing results (1-10 of 47) with videos related to
Sort By:
Page
of 5
The New England Journal of Medicine
|
March 14, 2019
BRCA2 in Ovarian Development and Function
Daniela Turchetti, Roberta Zuntini, Rossella Tricarico, et al.
World Journal of Clinical Cases
|
August 19, 2014
Rare large homozygous CFTR gene deletion in an Iranian patient with cystic fibrosis
Shirin Farjadian, Mozhgan Moghtaderi, Roberta Zuntini, et al.
Biomedicines
|
January 21, 2023
Gingival Overgrowths Revealing <i>PTEN</i> Hamartoma Tumor Syndrome: Report of Novel <i>PTEN</i> Pathogenic Variants
Samuele Sutera, Daniela Francesca Giachino, Alessandra Pelle, et al.
Human Heredity
|
July 26, 2014
Consanguinity and polygenic diseases: a model for antibody deficiencies
Valentina Di Pierro, Roberta Zuntini, Caterina Cancrini, et al.
The International Journal of Biochemistry & Cell Biology
|
April 23, 2016
A unique combination of rare mitochondrial ribosomal RNA variants affects the kinetics of complex I assembly
Anna Maria Porcelli, Maria Antonietta Calvaruso, Luisa Iommarini, et al.
Genes
|
April 23, 2022
MCPH1: A Novel Case Report and a Review of the Literature
Stefano Giuseppe Caraffi, Marzia Pollazzon, Muhammad Farooq, et al.
Cytogenetic and Genome Research
|
April 2, 2019
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype
Giulia Severi, Elena Bonora, Annamaria Perri, et al.
Frontiers in Genetics
|
September 27, 2018
Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?
Roberta Zuntini, Simona Ferrari, Elena Bonora, et al.
Journal of Medical Genetics
|
September 20, 2011
Two distinct thyroid tumours in a patient with Cowden syndrome carrying both a 10q23 and a mitochondrial DNA germline deletion
Laura Maria Pradella, Roberta Zuntini, Pamela Magini, et al.
Journal of Immunology Research
|
April 29, 2016
Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes
Federica Pulvirenti, Roberta Zuntini, Cinzia Milito, et al.
Page
of 5