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Nagel, Mato
22
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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/..
?
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
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/..
?
6
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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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
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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10
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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11
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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12
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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13
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/..
?
14
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/..
?
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/..
1-15