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Stöckler-Ipsiroglu, Sylvia
176
results:
Search for persons
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Format
Online (176)
Mediatypes
E-Books (1)
Articles (Online) (123)
Bookchapter (Online) (5)
OpenAccess-fulltext (47)
Languages
german (3)
english (156)
Sorted by: Relevance
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?
1
Real-world diagnostic outcomes and cost-effectiveness of ge..:
Regier, Dean A.
;
Loewen, Rosalie
;
Chan, Brandon
...
Genetics in Medicine. 26 (2024) 4 - p. 101069 , 2024
Link:
https://doi.org/10.1016/..
?
2
Claudin-11 in health and disease: implications for myelin d..:
Gjervan, Sophia C.
;
Ozgoren, Oguz K.
;
Gow, Alexander
..
Frontiers in Cellular Neuroscience. 17 (2024) - p. , 2024
Link:
https://doi.org/10.3389/..
?
3
Association Between Lysine Reduction Therapies and Cognitiv..:
Coughlin, Curtis R.
;
Tseng, Laura A.
;
Bok, Levinus A.
...
Neurology. 99 (2022) 23 - p. , 2022
Link:
https://doi.org/10.1212/..
?
4
Disorders of Creatine Metabolism:
, In:
Inborn Metabolic Diseases
,
Stöckler-Ipsiroglu, Sylvia
;
Mercimek-Andrews, Saadet
;
Salomons, Gajja S.
- p. 239-245 , 2022
Link:
https://doi.org/10.1007/..
?
5
Determining ideal balance among branched-chain amino acids ..:
Saleemani, Haneen
;
Horvath, Gabriella
;
Stockler-Ipsiroglu, Sylvia
.
Molecular Genetics and Metabolism. 135 (2022) 1 - p. 56-62 , 2022
Link:
https://doi.org/10.1016/..
?
6
Disorders of Creatine Metabolism:
, In:
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
,
Stöckler-Ipsiroglu, Sylvia
;
Braissant, Olivier
;
Schulze, Andreas
- p. 235-249 , 2022
Link:
https://doi.org/10.1007/..
?
7
Correction to: Toward the diagnosis of rare childhood genet..:
Pollard, Samantha
;
Weymann, Deirdre
;
Dunne, Jessica
...
European Journal of Human Genetics. 29 (2021) 10 - p. 1589-1589 , 2021
Link:
https://doi.org/10.1038/..
?
8
Idiopathic splenomegaly in childhood and the spectrum of RA..:
Blanchard-Rohner, Geraldine
;
Ragotte, Robert J.
;
Junker, Anne K.
...
BMC Pediatrics. 21 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1186/..
?
9
Toward the diagnosis of rare childhood genetic diseases: wh..:
Pollard, Samantha
;
Weymann, Deirdre
;
Dunne, Jessica
...
European Journal of Human Genetics. 29 (2021) 10 - p. 1491-1501 , 2021
Link:
https://doi.org/10.1038/..
?
10
Treatable inherited metabolic disorders causing intellectua..:
Hoytema van Konijnenburg, Eva M. M.
;
Wortmann, Saskia B.
;
Koelewijn, Marina J.
...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1186/..
?
11
Diagnostic yield from routine metabolic screening tests in ..:
Vallance, Hilary
;
Sinclair, Graham
;
Rakic, Bojana
.
Paediatrics & Child Health. 26 (2020) 6 - p. 344-348 , 2020
Link:
https://doi.org/10.1093/..
?
12
Morquio B Disease. Disease Characteristics and Treatment Op..:
Yuskiv, Nataliya
;
Higaki, Katsumi
;
Stockler-Ipsiroglu, Sylvia
International Journal of Molecular Sciences. 21 (2020) 23 - p. 9121 , 2020
Link:
https://doi.org/10.3390/..
?
13
Congenital lactic acidosis, cerebral cysts and pulmonary hy..:
Apatean, Delia
;
Rakic, Bojana
;
Brunel-Guitton, Catherine
...
Molecular Genetics and Metabolism Reports. 19 (2019) - p. 100472 , 2019
Link:
https://doi.org/10.1016/..
?
14
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable..:
Fischer-Zirnsak, Björn
;
Segebrecht, Lara
;
Schubach, Max
...
The American Journal of Human Genetics. 105 (2019) 3 - p. 631-639 , 2019
Link:
https://doi.org/10.1016/..
?
15
Congenital lactic acidosis, cerebral cysts and pulmonary hy..:
Apatean, Delia
;
Rakic, Bojana
;
Brunel-Guitton, Catherine
...
Molecular Genetics and Metabolism Reports. 18 (2019) - p. 32-38 , 2019
Link:
https://doi.org/10.1016/..
1-15