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Stöckler-Ipsiroglu, Sylvia
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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