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Schmidts, Miriam
234
results:
Search for persons
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Online (234)
Mediatypes
Articles (Online) (59)
Bookchapter (Online) (4)
OpenAccess-fulltext (170)
Thesis (Online) (1)
Languages
german (2)
english (206)
Sorted by: Relevance
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1
Biallelic variants in SLC4A10 encoding a sodium-dependent b..:
Maroofian, Reza
;
Zamani, Mina
;
Kaiyrzhanov, Rauan
...
Genetics in Medicine. 26 (2024) 3 - p. 101034 , 2024
Link:
https://doi.org/10.1016/..
?
2
IFT74 variants cause skeletal ciliopathy and motile cilia d..:
Bakey, Zeineb
;
Cabrera, Oscar A.
;
Hoefele, Julia
...
PLOS Genetics. 19 (2023) 6 - p. e1010796 , 2023
Link:
https://doi.org/10.1371/..
?
3
Genetic studies of paired metabolomes reveal enzymatic and ..:
Schlosser, Pascal
;
Scherer, Nora
;
Grundner-Culemann, Franziska
...
Nature Genetics. 55 (2023) 6 - p. 995-1008 , 2023
Link:
https://doi.org/10.1038/..
?
4
Riboflavin 1 Transporter Deficiency: Novel SLC52A1 Variants..:
Grünert, Sarah C.
;
Ziagaki, Athanasia
;
Heinen, André
...
Genes. 14 (2023) 7 - p. 1408 , 2023
Link:
https://doi.org/10.3390/..
?
5
Emerging principles of primary cilia dynamics in controllin..:
Gopalakrishnan, Jay
;
Feistel, Kerstin
;
Friedrich, Benjamin M
...
The EMBO Journal. 42 (2023) 21 - p. , 2023
Link:
https://doi.org/10.15252..
?
6
Ciliopathies: Their Role in Pediatric Kidney Disease:
, In:
Pediatric Kidney Disease
,
Schmidts, Miriam
;
Beales, Philip L.
- p. 289-315 , 2023
Link:
https://doi.org/10.1007/..
?
7
De novo truncatingNOVA2variants affect alternative splicing..:
Scala, Marcello
;
Drouot, Nathalie
;
MacLennan, Suzanna C.
...
Human Mutation. 43 (2022) 9 - p. 1299-1313 , 2022
Link:
https://doi.org/10.1002/..
?
8
Identification of a TPP1 Q278X Mutation in an Iranian Patie..:
Baranzehi, Tayebeh
;
Kordi-Tamandani, Dor Mohammad
;
Najafi, Maryam
..
Journal of Clinical Medicine. 11 (2022) 21 - p. 6415 , 2022
Link:
https://doi.org/10.3390/..
?
9
Spectrum of Genetic Variants in a Cohort of 37 Laterality D..:
Antony, Dinu
;
Gulec Yilmaz, Elif
;
Gezdirici, Alper
...
Frontiers in Genetics. 13 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
10
High detection rate for disease-causing variants in a cohor..:
Najafi, Maryam
;
Riedhammer, Korbinian M.
;
Rad, Aboulfazl
...
Frontiers in Pediatrics. 10 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
11
Identical IFT140 Variants Cause Variable Skeletal Ciliopath..:
Walczak-Sztulpa, Joanna
;
Wawrocka, Anna
;
Doornbos, Cenna
...
Frontiers in Genetics. 13 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
12
Identification of three novel homozygous variants in COL9A3..:
Rad, Aboulfazl
;
Najafi, Maryam
;
Suri, Fatemeh
...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
?
13
A recurrent homozygous missense DPM3 variant leads to muscl..:
Nagy, Sara
;
Lau, Tracy
;
Alavi, Shahryar
...
Clinical Genetics. 102 (2022) 6 - p. 530-536 , 2022
Link:
https://doi.org/10.1111/..
?
14
Author Correction: Rare genetic variants affecting urine me..:
Cheng, Yurong
;
Schlosser, Pascal
;
Hertel, Johannes
...
Nature Communications. 12 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/..
?
15
Ciliary Dyneins and Dynein Related Ciliopathies:
Antony, Dinu
;
Brunner, Han G.
;
Schmidts, Miriam
Cells. 10 (2021) 8 - p. 1885 , 2021
Link:
https://doi.org/10.3390/..
1-15