| # 2278 EUROCYS, a European cystinuria registry A Servais, G Capolongo, I Tostivint, S Lemoine, PM Ferraro, S Decramer, ... Nephrology Dialysis Transplantation 39 (Supplement_1), gfae069-0008-2278, 2024 | | 2024 |
| # 2528 APOL1 GENOTYPING AND PROTEINURIC KIDNEY DISEASE IN EUROPE B Knebelmann, K Bramham, K Mccafferty, M Zaidan, PAU Torres, ... Nephrology Dialysis Transplantation 38 (Supplement_1), gfad063b_2528, 2023 | | 2023 |
| # 2606 Clinically boosted exome-sequencing is necessary for accurate and highly sensitive genetic diagnosis of ADTKD-MUC1 H Saei, V Morinière, L Heidet, B Knebelmann, P Nitschke, C Antignac, ... Nephrology Dialysis Transplantation 39 (Supplement_1), gfae069-0129-2606, 2024 | | 2024 |
| # 2746 Long-term benefits in dRTA patients treated with Sibnayal®, a prolonged-release combination of potassium bicarbonate and citrate: 6-year results A Bertholet-Thomas, J Bernardor, A De Mul, G Roussey-Kesler, ... Nephrology Dialysis Transplantation 39 (Supplement_1), gfae069-0270-2746, 2024 | | 2024 |
| # 382 Unexpected diagnoses of ADTKD-MUC1 with the help of VNtyper J Kachmar, H Saei, V Morinière, L Heidet, O Gribouval, ... Nephrology Dialysis Transplantation 39 (Supplement_1), gfae069-0226-382, 2024 | | 2024 |
| # 6649 SIGNIFICANT CLINICAL IMPROVEMENT OF PAEDIATRIC AND ADULT PATIENTS WITH DISTAL RENAL TUBULAR ACIDOSIS AFTER 6 YEARS OF TREATMENT WITH SIBNAYAL® A Bertholet-Thomas, J Bernardor, G Roussey-Kesler, L Podracka, R Novo, ... Nephrology Dialysis Transplantation 38 (Supplement_1), gfad063c_6649, 2023 | | 2023 |
| 2, 8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism I Ceballos-Picot, M Daudon, J Harambat, A Bensman, B Knebelmann, ... Nucleosides, Nucleotides and Nucleic Acids 33 (4-6), 241-252, 2014 | 22 | 2014 |
| A critical domain of the von Hippel-Lindau (VHL) tumor suppressor gene product. HT Cohen, S Zarghamee, B Knebelmann, T Kishida, B Zbar, ... JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY 8, A1792-A1792, 1997 | 1 | 1997 |
| A molecular approach to inherited kidney disorders B Knebelmann, C Antignac, MC Gubler, JP Grünfeld Kidney international 44 (6), 1205-1216, 1993 | 23 | 1993 |
| A new workflow for proteomic analysis of urinary exosomes and assessment in cystinuria patients M Bourderioux, T Nguyen-Khoa, C Chhuon, L Jeanson, D Tondelier, ... Journal of proteome research 14 (1), 567-577, 2015 | 57 | 2015 |
| A syndrome of IgA-related polycythemia C Cohen, S Coulon, K Bhukai, M Dussiot, A Neuraz, M Flamant, ... Blood 130, 3490, 2017 | 2 | 2017 |
| A wave of deep intronic mutations in X-linked Alport syndrome M Boisson, C Arrondel, N Cagnard, V Morinière, ZA Arkoub, H Saei, ... Kidney International 104 (2), 367-377, 2023 | 4 | 2023 |
| AA amyloidosis associated with Fabry disease A Terré, B Knebelmann, D Buob, M Rabant, O Lidove, S Deshayes, ... International Journal of Clinical Practice 74 (10), e13577, 2020 | 2 | 2020 |
| Aberrant splicing of the COL4A5 gene in patients with Alport syndrome HH LemmInk, LAJ KIuIjtmans, HG Brunner, CH Schröder, B Knebelmann, ... Human molecular genetics 3 (2), 317-322, 1994 | 38 | 1994 |
| Abnormal expression of intercellular junctions in ADPKD cystic epithelial cells H Husson, RJ Russo, B Knebelmann, D Joly, O Ibraghimov-Beskrovnaya JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY 14, 577A-577A, 2003 | | 2003 |
| Acute renal insufficiency due to delayed post-transfusional hemolysis with anti-C antibodies P Remy, B Knebelmann, A François, B Vendeville, C Jacquot, J Bariety Presse medicale (Paris, France: 1983) 18 (14), 728, 1989 | | 1989 |
| ACUTE RENAL-FAILURE DUE TO DELAYED HEMOLYTIC TRANSFUSION REACTION WITH ANTI-C ANTIBODIES P REMY, B KNEBELMANN, A FRANCOIS, B VENDEVILLE, C JACQUOT, ... PRESSE MEDICALE 18 (14), 728-728, 1989 | | 1989 |
| Adenine phosphoribosyltransferase (APRT) deficiency: phenotype and genotype characterization of a large cohort G Bollee, C Dollinger, L Boutaud, A Bensman, J Harambat, P Deteix, ... JOURNAL OF INHERITED METABOLIC DISEASE 33, S25-S25, 2010 | 1 | 2010 |
| Adenine phosphoribosyltransferase deficiency G Bollee, J Harambat, A Bensman, B Knebelmann, M Daudon, ... Clinical Journal of the American Society of Nephrology 7 (9), 1521-1527, 2012 | 108 | 2012 |
| Adverse Effects of Currently Used Medical Treatments for Cystinuria and Treatment Goals: Results from a French Series of 442 Patients. C Prot-Bertoye, S Lebbah, M Daudon, I Tostivint, JP Jais, LL Louet, ... | 1 | 2019 |
Vikas P. SukhatmeEmory School of Medicine在 emory.edu 的电子邮件经过验证
