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Ebiomedicine
|
March 1, 2021
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
Margherita 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 deficiency
Stefania 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 analysis
Charles 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 glomerulopathy
Stefania 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 database
Matthew Bower, Rémi Salomon, Judith Allanson, et al.
Kidney International
|
March 22, 2013
Genetic screening in adolescents with steroid-resistant nephrotic syndrome
Beata 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 sequencing
Anne-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 them
Ainsley 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 TransplantChild
Daniele Donà, Cecilia Liberati, Enrico Aidala, et al.
Nature Medicine
|
January 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Steven Laurie, Wouter Steyaert, Elke de Boer, et al.
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Search research articles
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Showing results (141-150 of 150) with videos related to
Sort By:
Page
of 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 males
Margherita 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 deficiency
Stefania 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 analysis
Charles 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 glomerulopathy
Stefania 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 database
Matthew Bower, Rémi Salomon, Judith Allanson, et al.
Kidney International
|
March 22, 2013
Genetic screening in adolescents with steroid-resistant nephrotic syndrome
Beata 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 sequencing
Anne-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 them
Ainsley 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 TransplantChild
Daniele Donà, Cecilia Liberati, Enrico Aidala, et al.
Nature Medicine
|
January 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Steven Laurie, Wouter Steyaert, Elke de Boer, et al.
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of 15