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Sylvia Stockler‐Ipsiroglu
132
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Online (132)
Mediatypes
E-Books (1)
Articles (Online) (77)
Bookchapter (Online) (3)
OpenAccess-fulltext (51)
Languages
german (2)
english (122)
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?
1
Carnitine deficiency, hearing loss and hydrochlorothiazide‐..:
Mattman, Andre
;
Masoudi, Raha
;
Stockler‐Ipsiroglu, Sylvia
...
American Journal of Medical Genetics Part A. 188 (2022) 10 - p. 3139-3141 , 2022
Link:
https://doi.org/10.1002/..
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2
Morquio‐like dysostosis multiplex presenting with neuronopa..:
Stockler‐Ipsiroglu, Sylvia
;
Yazdanpanah, Nahid
;
Yazdanpanah, Mojgan
...
JIMD Reports. 60 (2021) 1 - p. 23-31 , 2021
Link:
https://doi.org/10.1002/..
?
3
Dietary management and growth outcomes in children with pro..:
Saleemani, Haneen
;
Egri, Csilla
;
Horvath, Gabriella
..
JIMD Reports. 61 (2021) 1 - p. 67-75 , 2021
Link:
https://doi.org/10.1002/..
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4
Developments in evidence creation for treatments of inborn ..:
Stockler‐Ipsiroglu, Sylvia
;
Potter, Beth K.
;
Yuskiv, Nataliya
...
Journal of Inherited Metabolic Disease. 44 (2020) 1 - p. 88-98 , 2020
Link:
https://doi.org/10.1002/..
?
5
Impact of enteral arginine supplementation on lysine metabo..:
Schmidt, Zoe
;
Murthy, Gayathri
;
Ennis, Madeleine
..
Journal of Inherited Metabolic Disease. 43 (2020) 5 - p. 952-959 , 2020
Link:
https://doi.org/10.1002/..
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6
Morquio‐B disease: Clinical and genetic characteristics of ..:
Abumansour, Iman S.
;
Yuskiv, Nataliya
;
Paschke, Eduard
.
JIMD Reports. 51 (2019) 1 - p. 30-44 , 2019
Link:
https://doi.org/10.1002/..
?
7
Eighteen‐year follow‐up of a patient with cobalamin F disea..:
Alfadhel, Majid
;
Lillquist, Yolanda P.
;
Davis, Cynthia
..
American Journal of Medical Genetics Part A. 155 (2011) 10 - p. 2571-2577 , 2011
Link:
https://doi.org/10.1002/..
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8
Folinic acid–responsive seizures are identical to pyridoxin..:
Gallagher, Renata C.
;
Van Hove, Johan L. K.
;
Scharer, Gunter
...
Annals of Neurology. 65 (2009) 5 - p. 550-556 , 2009
Link:
https://doi.org/10.1002/..
?
9
Creatine metabolism in combined methylmalonic aciduria and ..:
Bodamer, Olaf A.
;
Sahoo, Trilochan
;
Beaudet, Arthur L.
...
Annals of Neurology. 57 (2005) 4 - p. 557-560 , 2005
Link:
https://doi.org/10.1002/..
?
10
De novo pathogenic DNM1L variant in a patient diagnosed wit..:
Tarailo‐Graovac, Maja
;
Zahir, Farah R.
;
Zivkovic, Irena
...
Molecular Genetics & Genomic Medicine. 7 (2019) 10 - p. , 2019
Link:
https://doi.org/10.1002/..
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11
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/..
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12
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/..
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13
Claudin-11 in health and disease: implications for myelin d..:
Sophia C. Gjervan
;
Oguz K. Ozgoren
;
Alexander Gow
..
https://www.frontiersin.org/articles/10.3389/fncel.2023.1344090/full. , 2024
Link:
https://doi.org/10.3389/..
?
14
Assessing the quality and value of metabolic chart data for..:
Ryan Iverson
;
Monica Taljaard
;
Michael T. Geraghty
...
https://doi.org/10.1186/s12887-023-04393-4. , 2024
Link:
https://doi.org/10.1186/..
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15
Additional file 1 of Assessing the quality and value of met..:
Ryan Iverson
;
Monica Taljaard
;
Michael T. Geraghty
...
doi:10.6084/m9.figshare.24993673.v1. , 2024
Link:
https://doi.org/10.6084/..
1-15