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Nature Reviews. Nephrology
|
January 15, 2025
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
Dieter Haffner, Francesco Emma, Lothar Seefried, et al.
Kidney International
|
July 8, 2021
An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis
Francesco Emma, William Van't Hoff, Katharina Hohenfellner, et al.
Cell Reports
|
March 19, 2020
APOL1 C-Terminal Variants May Trigger Kidney Disease through Interference with APOL3 Control of Actomyosin
Sophie Uzureau, Laurence Lecordier, Pierrick Uzureau, et al.
European Journal of Endocrinology
|
June 23, 2026
Second interim analysis of the post-authorisation safety study (PASS) of burosumab in paediatric patients with X-linked hypophosphataemia
Signe Sparre Beck-Nielsen, Gema Ariceta, Annemieke M Boot, et al.
EMBO Molecular Medicine
|
June 24, 2021
Cysteamine-bicalutamide combination therapy corrects proximal tubule phenotype in cystinosis
Amer Jamalpoor, Charlotte Agh van Gelder, Fjodor A Yousef Yengej, et al.
Journal of the American Society of Nephrology : JASN
|
June 7, 2015
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia
Karl P Schlingmann, Justyna Ruminska, Martin Kaufmann, et al.
Orphanet Journal of Rare Diseases
|
November 7, 2016
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?
Marie Morimoto, Clara Myung, Kimberly Beirnes, et al.
European Journal of Human Genetics : EJHG
|
June 2, 2005
Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy
Ernie M H F Bongers, Frans T Huysmans, Elena Levtchenko, et al.
Journal of Inherited Metabolic Disease
|
June 10, 2019
Management of bone disease in cystinosis: Statement from an international conference
Katharina Hohenfellner, Frank Rauch, Gema Ariceta, et al.
Orphanet Journal of Rare Diseases
|
June 3, 2021
The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results
Giulia Bassanese, Tanja Wlodkowski, Aude Servais, et al.
Page
of 19
Search research articles
Search
Showing results (161-170 of 182) with videos related to
Sort By:
Page
of 19
Nature Reviews. Nephrology
|
January 15, 2025
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
Dieter Haffner, Francesco Emma, Lothar Seefried, et al.
Kidney International
|
July 8, 2021
An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis
Francesco Emma, William Van't Hoff, Katharina Hohenfellner, et al.
Cell Reports
|
March 19, 2020
APOL1 C-Terminal Variants May Trigger Kidney Disease through Interference with APOL3 Control of Actomyosin
Sophie Uzureau, Laurence Lecordier, Pierrick Uzureau, et al.
European Journal of Endocrinology
|
June 23, 2026
Second interim analysis of the post-authorisation safety study (PASS) of burosumab in paediatric patients with X-linked hypophosphataemia
Signe Sparre Beck-Nielsen, Gema Ariceta, Annemieke M Boot, et al.
EMBO Molecular Medicine
|
June 24, 2021
Cysteamine-bicalutamide combination therapy corrects proximal tubule phenotype in cystinosis
Amer Jamalpoor, Charlotte Agh van Gelder, Fjodor A Yousef Yengej, et al.
Journal of the American Society of Nephrology : JASN
|
June 7, 2015
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia
Karl P Schlingmann, Justyna Ruminska, Martin Kaufmann, et al.
Orphanet Journal of Rare Diseases
|
November 7, 2016
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?
Marie Morimoto, Clara Myung, Kimberly Beirnes, et al.
European Journal of Human Genetics : EJHG
|
June 2, 2005
Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy
Ernie M H F Bongers, Frans T Huysmans, Elena Levtchenko, et al.
Journal of Inherited Metabolic Disease
|
June 10, 2019
Management of bone disease in cystinosis: Statement from an international conference
Katharina Hohenfellner, Frank Rauch, Gema Ariceta, et al.
Orphanet Journal of Rare Diseases
|
June 3, 2021
The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results
Giulia Bassanese, Tanja Wlodkowski, Aude Servais, et al.
Page
of 19