Elisabet Ars - Laboratory of Molecular Biology, Universitat Autònoma de Barcelona

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论文共 182 篇作者统计合作学者相似作者

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When Should the Nephrologist Think about Genetics in Patients with Glomerular Diseases

Roser Torra,Xoana Barros, Montserrat Díaz-Encarnación, Leonor Fayos, Mónica Furlano, Melissa Pilco,Marc Pybus, Amir Shabaka, Elizabeth Viera,Elisabet Ars

Clinical kidney journalno. 3 (2025): sfaf044-sfaf044

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Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants

Journal of the American Society of Nephrology JASNno. 6 (2025): 1056-1071

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EP06.20: Role of Next‐generation‐sequencing in the Etiological Diagnosis of Prenatal Bilateral Renal Agenesis

V. Borobio,M. Pérez‐Cruz,E. Ars,L. Rodriguez‐Revenga,A. Borrell

Ultrasound in Obstetrics &amp Gynecologyno. S1 (2024): 153-153

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#2613 Clinical Spectrum and Prognosis of the Atypical Polycystic Kidney Disease Caused by Monoallelic Loss-of-function IFT140 Variants

Nikola Zagorec, Alizée Calamel,Elisabet Ars,Albert Ong,Jan Halbritter,Marie-Pierre Audrezet, Vignesh-Guru Pillay,Yannick Le Meur,John Sayer, Genkyst Study Group,Emilie Cornec-Le Gall

Nephrology Dialysis Transplantation（2024）

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Factors Affecting Disease Progression in Individuals with Heterozygous COL4A3/COL4A4 Pathogenic Variants

Melissa Pilco Teran,Monica Furlano,Marc Pybus,Victor Martinez Jimenez,Elena Goma-Garces,Isabel Galan Carrillo,Rafael Leon,Maria Jose Soler Romeo,Leonor Fayos de Arizon,Alexandre Perera,Elisabet Ars,Roser Torra

NEPHROLOGY DIALYSIS TRANSPLANTATION (2024): I416-I417

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Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140

Nikola Zagorec, Alizée Calamel, Margaux Delaporte,Eric Olinger,Sarah Orr,John A. Sayer, Vignesh-Guru Pillay,Anne Sophie Denommé-Pichon, Frederic Tran Mau-Them,Sophie Nambot,Laurence Faivre,Elisabet Ars,Roser Torra,Albert CM. Ong,Olivier Devuyst, Noberto Perico, Aurore Michel Després, Hugo Lemoine,Jonathan de Fallois, Romain Brousse

American Journal of Kidney Diseases（2024）

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Long-term Outcome of NPHS2-related Glomerulopathy

Beata Lipska,Jonas Hofstetter,Agnes Trautmann,Olivia Boyer,Moin Saleem,Kalman Tory,Elisabet Ars,Guillaume Dorval,Franz Schaefer

PEDIATRIC NEPHROLOGYno. 1 (2024): S339-S339

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A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene

Gloria Fraga, M. Alba Herreros,Marc Pybus,Miriam Aza-Carmona,Melissa Pilco-Teran,Monica Furlano, M. Jose Garcia-Borau,Roser Torra,Elisabet Ars

Genesno. 6 (2024): 679-679

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#2068 Factors Affecting Disease Progression in Individuals with Heterozygous COL4A3/COL4A4 Pathogenic Variants

Melissa Pilco Teran,Monica Furlano,Marc Pybus,Víctor Martínez Jiménez,Elena Gomá-Garcés,Isabel Galan Carrillo,Rafael Leon,Maria Jose Soler Romeo,Leonor Fayos de Arizón,Alexandre Perera,Elisabet Ars,Roser Torra

Nephrology Dialysis Transplantation（2024）

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#2259 Preimplantation Genetic Testing in Inherited Kidney Diseases

Monica Furlano,Adria Tinoco,Erasmia Sampani,Catarina Almeida,Pedro Lisboa Goncalves,Ana Polo,Olga Martinez,Melissa Pilco Teran,Elizabeth Romelia Viera Ramirez,Elisabet Ars,Roser Torra

Nephrology Dialysis Transplantationno. Supplement_1 (2024)

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