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Nagel, Mato
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1

A 21-year-old woman with progressive asymptomatic skin laxi..:

Gambichler, Thilo ; Hoffjan, Sabine ; Nagel, Mato...
Clinical and Experimental Dermatology.  , 2023
Link: https://doi.org/10.1093/..
 
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2

Characterization of Choriocapillaris and Choroidal Abnormal..:

Cicinelli, Maria Vittoria ; Ritter, Markus ; Tausif, Hassan...
Translational Vision Science & Technology.  11 (2022)  3 - p. 23 , 2022
Link: https://doi.org/10.1167/..
 
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3

Lifelong effect of therapy in young patients with the COL4A..:

Boeckhaus, Jan ; Hoefele, Julia ; Riedhammer, Korbinian M...
Nephrology Dialysis Transplantation.  37 (2022)  12 - p. 2496-2504 , 2022
Link: https://doi.org/10.1093/..
 
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4

Challenging Disease Ontology by Instances of Atypical PKHD1..:

de Fallois, Jonathan ; Schönauer, Ria ; Münch, Johannes...
Frontiers in Genetics.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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5

CNNM2 homozygous mutations cause severe refractory hypomagn..:

Accogli, Andrea ; Scala, Marcello ; Calcagno, Annalisa...
European Journal of Medical Genetics.  62 (2019)  3 - p. 198-203 , 2019
Link: https://doi.org/10.1016/..
 
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6

Kidney Injury by Variants in the COL4A5 Gene Aggravated by ..:

Frese, Jenny ; Kettwig, Matthias ; Zappel, Hildegard...
International Journal of Molecular Sciences.  20 (2019)  3 - p. 519 , 2019
Link: https://doi.org/10.3390/..
 
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7

The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possib..:

Macheroux, Eva Pauline ; Braunisch, Matthias C. ; Pucci Pegler, Stephanie...
Frontiers in Pediatrics.  7 (2019)  - p. , 2019
Link: https://doi.org/10.3389/..
 
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8

Expert consensus guidelines for the genetic diagnosis of Al..:

Savige, Judy ; Ariani, Francesca ; Mari, Francesca...
Pediatric Nephrology.  34 (2018)  7 - p. 1175-1189 , 2018
Link: https://doi.org/10.1007/..
 
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9

Epilepsy, ataxia, sensorineural deafness, tubulopathy syndr..:

Papavasiliou, Antigone ; Foska, Katerina ; Ioannou, John.
SAGE Open Medical Case Reports.  5 (2017)  - p. 2050313X1772354 , 2017
Link: https://doi.org/10.1177/..
 
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10

A case report on the exceptional coincidence of two inherit..:

Ebner, Kathrin ; Reintjes, Nadine ; Feldkötter, Markus...
Clinical Nephrology.  88 (2017)  7 - p. 45-51 , 2017
Link: https://doi.org/10.5414/..
 
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11

X-Linked and Autosomal Recessive Alport Syndrome: Pathogeni..:

Savige, Judith ; Storey, Helen ; Il Cheong, Hae...
PLOS ONE.  11 (2016)  9 - p. e0161802 , 2016
Link: https://doi.org/10.1371/..
 
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12

A case report of Gitelman syndrome resulting from two novel..:

Wolyniec, Wojciech ; Jakubowska, Sonia Kaniuka- ; Nagel, Mato...
Nefrología (English Edition).  36 (2016)  3 - p. 304-309 , 2016
Link: https://doi.org/10.1016/..
 
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13

Autosomal dominant tubulointerstitial kidney disease caused..:

Raffler, Gabriele ; Zitt, Emanuel ; Sprenger-Mähr, Hannelore..
Wiener klinische Wochenschrift.  128 (2016)  7-8 - p. 291-294 , 2016
Link: https://doi.org/10.1007/..
 
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14

A case report of Gitelman syndrome resulting from two novel..:

Wolyniec, Wojciech ; Jakubowska, Sonia Kaniuka- ; Nagel, Mato...
Nefrología.  36 (2016)  3 - p. 304-309 , 2016
Link: https://doi.org/10.1016/..
 
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15

SP913HEPATOBLASTOMA IN A CHILD WITH FAMILIAL HYPOMAGNESAEMI..:

Prikhodina, Larisa ; Lebedenkova, Marina ; Katysheva, Olga.
Nephrology Dialysis Transplantation.  30 (2015)  suppl_3 - p. iii677-iii677 , 2015
Link: https://doi.org/10.1093/..
 
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