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Morinière, Vincent
57
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Online (57)
Mediatypes
Articles (Online) (25)
OpenAccess-fulltext (32)
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1
#2606 Clinically boosted exome-sequencing is necessary for ..:
Saei, Hassan
;
Morinière, Vincent
;
Heidet, Laurence
...
Nephrology Dialysis Transplantation. 39 (2024) Supplement_1 - p. , 2024
Link:
https://doi.org/10.1093/..
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2
P135: X-linked Alport syndrome: From transcriptomic diagnos..:
Saei, Hassan
;
Boisson, Marie
;
Arrondel, Christelle
...
Genetics in Medicine Open. 2 (2024) - p. 101032 , 2024
Link:
https://doi.org/10.1016/..
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3
P168: MUC1 gene coding-VNTR alignment-free genotyping appro..:
Saei, Hassan
;
Kachmar, Jessica
;
Morinière, Vincent
...
Genetics in Medicine Open. 2 (2024) - p. 101065 , 2024
Link:
https://doi.org/10.1016/..
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4
Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants ..:
Kachmar, Jessica
;
Boyer, Olivia
;
Lipska-Ziętkiewicz, Beata
...
Kidney International Reports. 9 (2024) 4 - p. 973-981 , 2024
Link:
https://doi.org/10.1016/..
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5
Targeted RNAseq from patients' urinary cells to validate pa..:
Dorval, Guillaume
;
Le Gac, Gérald
;
Morinière, Vincent
...
Kidney International. , 2024
Link:
https://doi.org/10.1016/..
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6
#382 Unexpected diagnoses of ADTKD-MUC1 with the help of VN..:
Kachmar, Jessica
;
Saei, Hassan
;
Morinière, Vincent
...
Nephrology Dialysis Transplantation. 39 (2024) Supplement_1 - p. , 2024
Link:
https://doi.org/10.1093/..
?
7
A wave of deep intronic mutations in X-linked Alport syndro..:
Boisson, Marie
;
Arrondel, Christelle
;
Cagnard, Nicolas
...
Kidney International. 104 (2023) 2 - p. 367-377 , 2023
Link:
https://doi.org/10.1016/..
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8
VNtyper enables accurate alignment-free genotyping of MUC1 ..:
Saei, Hassan
;
Morinière, Vincent
;
Heidet, Laurence
...
iScience. 26 (2023) 7 - p. 107171 , 2023
Link:
https://doi.org/10.1016/..
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9
The genetic landscape and clinical spectrum of nephronophth..:
Petzold, Friederike
;
Billot, Katy
;
Chen, Xiaoyi
...
Kidney International. 104 (2023) 2 - p. 378-387 , 2023
Link:
https://doi.org/10.1016/..
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10
Human C-terminal CUBN variants associate with chronic prote..:
Bedin, Mathilda
;
Boyer, Olivia
;
Servais, Aude
...
Journal of Clinical Investigation. 132 (2022) 11 - p. , 2022
Link:
https://doi.org/10.1172/..
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11
Bi‐allelic pathogenic variants in ITGA8 cause slowly progre..:
Gómez‐Conde, Sara
;
Dunand, Olivier
;
Hummel, Aurélie
...
Clinical Genetics. 103 (2022) 1 - p. 114-118 , 2022
Link:
https://doi.org/10.1111/..
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12
Cystic kidney diseases associated with mutations in phospho..:
Dorval, Guillaume
;
Jeanpierre, Cécile
;
Morinière, Vincent
...
Pediatric Nephrology. , 2021
Link:
https://doi.org/10.1007/..
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13
Bi-allelic mutations in renin-angiotensin system genes, ass..:
Fila, Marc
;
Morinière, Vincent
;
Eckart, Philippe
...
Pediatric Nephrology. 35 (2020) 6 - p. 1125-1128 , 2020
Link:
https://doi.org/10.1007/..
?
14
The "salt and pepper" pattern on renal ultrasound in a grou..:
Iorio, Pauline
;
Heidet, Laurence
;
Rutten, Caroline
...
Pediatric Nephrology. 35 (2020) 6 - p. 1033-1040 , 2020
Link:
https://doi.org/10.1007/..
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15
School level of children carrying a HNF1B variant or a dele..:
Laliève, Fanny
;
Decramer, Stéphane
;
Heidet, Laurence
...
European Journal of Human Genetics. 28 (2019) 1 - p. 56-63 , 2019
Link:
https://doi.org/10.1038/..
1-15