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1 . Academic Journal
A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene
저자
by
Gloria Fraga
;
M. Alba Herreros
;
Marc Pybus
;
Miriam Aza-Carmona
;
Melissa Pilco-Teran
, et al.
소스
Genes, Vol 15, Iss 6, p 679 (2024)
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7 . Academic Journal
Consensus document on autosomal dominant polycystic kindey disease from the Spanish Working Group on Inherited Kindey Diseases. Review 2020
저자
by
Elisabet Ars
;
Carmen Bernis
;
Gloria Fraga
;
Mónica Furlano
;
Víctor Martínez
, et al.
소스
Nefrología (English Edition), Vol 42, Iss 4, Pp 367-389 (2022)
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7 . Academic Journal
Documento de consenso de poliquistosis renal autosómica dominante del grupo de trabajo de enfermedades hereditarias de la Sociedad Española de Nefrología. Revisión 2020
저자
by
Elisabet Ars
;
Carmen Bernis
;
Gloria Fraga
;
Mónica Furlano
;
Víctor Martínez
, et al.
소스
Nefrología, Vol 42, Iss 4, Pp 367-389 (2022)
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7 . Academic Journal
Reply to Comments on the SENefro Consensus Document on Autosomal Dominant Polycystic Kidney Disease
저자
by
Alberto Ortiz
;
Elisabet Ars
;
Carmen Bernis
;
Gloria Fraga
;
Mónica Furlano
, et al.
소스
Nefrología (English Edition), Vol 43, Iss 1, Pp 152-153 (2023)
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7 . Academic Journal
Respuesta a Comentarios sobre el Documento de Consenso de Poliquistosis Renal Autosómica Dominante de la SENefro
저자
by
Alberto Ortiz
;
Elisabet Ars
;
Carmen Bernis
;
Gloria Fraga
;
Mónica Furlano
, et al.
소스
Nefrología, Vol 43, Iss 1, Pp 152-153 (2023)
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7 . Academic Journal
The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease
저자
by
Mónica Furlano
;
Elisabet Ars
;
Anna Matamala
;
Vicens Brossa
;
Joan Martí
, et al.
소스
Case Reports in Genetics, Vol 2022 (2022)
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7 . Academic Journal
The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis
저자
by
Jingyuan Xie
;
Lili Liu
;
Nikol Mladkova
;
Yifu Li
;
Hong Ren
, et al.
소스
Nature Communications, Vol 11, Iss 1, Pp 1-18 (2020)
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7 . Academic Journal
Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature
저자
by
Andrea Domingo-Gallego
;
Mónica Furlano
;
Marc Pybus
;
Daniel Barraca
;
Ana Belén Martínez
, et al.
소스
BMC Nephrology, Vol 20, Iss 1, Pp 1-8 (2019)
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7 . Academic Journal
Nefropatía asociada a mutación del gen MYH9
저자
by
Mónica Furlano
;
Rosa Arlandis
;
María del Prado Venegas
;
Silvana Novelli
;
Jaume Crespi
, et al.
소스
Nefrología, Vol 39, Iss 2, Pp 133-140 (2019)
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7 . Academic Journal
MYH9 Associated nephropathy
저자
by
Mónica Furlano
;
Rosa Arlandis
;
María del Prado Venegas
;
Silvana Novelli
;
Jaume Crespi
, et al.
소스
Nefrología (English Edition), Vol 39, Iss 2, Pp 133-140 (2019)
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