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Elisa Benetti

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

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Ebiomedicine|March 1, 2021
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European malesMargherita Baldassarri, Nicola Picchiotti, Francesca Fava, et al.
Kidney International|June 1, 2022
Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiencyStefania Drovandi, Beata S Lipska-Ziętkiewicz, Fatih Ozaltin, et al.
Science (New York, N.Y.)|June 23, 2022
Pathogen-sugar interactions revealed by universal saturation transfer analysisCharles J Buchanan, Ben Gaunt, Peter J Harrison, et al.
Kidney International|April 28, 2022
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathyStefania Drovandi, Beata S Lipska-Ziętkiewicz, Fatih Ozaltin, et al.
Human Mutation|January 4, 2012
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific databaseMatthew Bower, Rémi Salomon, Judith Allanson, et al.
Kidney International|March 22, 2013
Genetic screening in adolescents with steroid-resistant nephrotic syndromeBeata S Lipska, Paraskevas Iatropoulos, Ramona Maranta, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 22, 2023
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencingAnne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, et al.
Blood|January 24, 2025
One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying themAinsley V C Knox, Lauren Y Cominsky, Di Sun, et al.
Pediatric Transplantation|June 27, 2026
Antimicrobial Prophylaxis in Solid Organ and Hematopoietic Stem Cell Transplantation: A Survey Among Member Centers of the European Reference Network TransplantChildDaniele Donà, Cecilia Liberati, Enrico Aidala, et al.
Nature Medicine|January 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnosesSteven Laurie, Wouter Steyaert, Elke de Boer, 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.
Ebiomedicine|March 1, 2021
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European malesMargherita Baldassarri, Nicola Picchiotti, Francesca Fava, et al.
Kidney International|June 1, 2022
Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiencyStefania Drovandi, Beata S Lipska-Ziętkiewicz, Fatih Ozaltin, et al.
Science (New York, N.Y.)|June 23, 2022
Pathogen-sugar interactions revealed by universal saturation transfer analysisCharles J Buchanan, Ben Gaunt, Peter J Harrison, et al.
Kidney International|April 28, 2022
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathyStefania Drovandi, Beata S Lipska-Ziętkiewicz, Fatih Ozaltin, et al.
Human Mutation|January 4, 2012
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific databaseMatthew Bower, Rémi Salomon, Judith Allanson, et al.
Kidney International|March 22, 2013
Genetic screening in adolescents with steroid-resistant nephrotic syndromeBeata S Lipska, Paraskevas Iatropoulos, Ramona Maranta, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 22, 2023
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencingAnne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, et al.
Blood|January 24, 2025
One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying themAinsley V C Knox, Lauren Y Cominsky, Di Sun, et al.
Pediatric Transplantation|June 27, 2026
Antimicrobial Prophylaxis in Solid Organ and Hematopoietic Stem Cell Transplantation: A Survey Among Member Centers of the European Reference Network TransplantChildDaniele Donà, Cecilia Liberati, Enrico Aidala, et al.
Nature Medicine|January 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnosesSteven Laurie, Wouter Steyaert, Elke de Boer, et al.
Pageof 15