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Berna, Linda
18  results:
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1

LysoGb3 quantification facilitates phenotypic categorizatio..:

Kuchar, Ladislav ; Berna, Linda ; Poupetova, Helena...
Clinica Chimica Acta.  561 (2024)  - p. 119824 , 2024
Link: https://doi.org/10.1016/..
 
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2

The birth prevalence of lysosomal storage disorders in the ..:

Poupětová, Helena ; Ledvinová, Jana ; Berná, Linda...
Journal of Inherited Metabolic Disease.  33 (2010)  4 - p. 387-396 , 2010
Link: https://doi.org/10.1007/..
 
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3

Mucopolysaccharidosis type I in 21 Czech and Slovak patient..:

Vazna, Alzbeta ; Beesley, Clare ; Berna, Linda...
American Journal of Medical Genetics Part A.  149A (2009)  5 - p. 965-974 , 2009
Link: https://doi.org/10.1002/..
 
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4

Prosaposin deficiency and saposin B deficiency (activator‐d..:

Kuchař, Ladislav ; Ledvinová, Jana ; Hřebíček, Martin...
American Journal of Medical Genetics Part A.  149A (2009)  4 - p. 613-621 , 2009
Link: https://doi.org/10.1002/..
 
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5

Replacement of α-galactosidase A in Fabry disease: effect o..:

Keslová-Veselíková, Jana ; Hůlková, Helena ; Dobrovolný, Robert...
Virchows Archiv.  452 (2008)  6 - p. 651-665 , 2008
Link: https://doi.org/10.1007/..
 
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6

Missense mutations as a cause of metachromatic leukodystrop..:

Poeppel, Peter ; Habetha, Matthias ; Marcão, Ana...
The FEBS Journal.  272 (2005)  5 - p. 1179-1188 , 2005
Link: https://doi.org/10.1111/..
 
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7

Mutations c.459 + 1G > A and p.P426L in the ARSA gene: Prev..:

Lugowska, Agnieszka ; Amaral, Olga ; Berger, Johannes...
Molecular Genetics and Metabolism.  86 (2005)  3 - p. 353-359 , 2005
Link: https://doi.org/10.1016/..
 
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8

Novel mutations associated with metachromatic leukodystroph..:

Berná, Linda ; Gieselmann, Volkmar ; Poupětová, Helena...
American Journal of Medical Genetics Part A.  129A (2004)  3 - p. 277-281 , 2004
Link: https://doi.org/10.1002/..
 
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9

Determination of Urinary Sulfatides and Other Lipids by Com..:

Berná, Linda ; Asfaw, Befekadu ; Conzelmann, Ernst..
Analytical Biochemistry.  269 (1999)  2 - p. 304-311 , 1999
Link: https://doi.org/10.1006/..
 
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10

Contributors:

, In: Comprehensive Guide to Hepatitis Advances,
Agarwal, Kosh ; Armandi, Angelo ; Berná, Genoveva... - p. xi-xiv , 2023
Link: https://doi.org/10.1016/..
 
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11

Bone diagenesis in archaeological and contemporary human re..:

Caruso, Valentina ; Marinoni, Nicoletta ; Diella, Valeria...
Archaeological and Anthropological Sciences.  12 (2020)  8 - p. , 2020
Link: https://doi.org/10.1007/..
 
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12

Prioritisation of research topics for head and neck cancer ..:

Sharma, Neil ; Fagan, Johannes ; Wallace, Melissa...
Oral Oncology.  102 (2020)  - p. 104503 , 2020
Link: https://doi.org/10.1016/..
 
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13

Legislative change in Ireland: a Marxist political economy ..:

Fox-Rogers, Linda ; Murphy, Enda ; Grist, Berna
Town Planning Review.  82 (2011)  6 - p. 639-668 , 2011
Link: https://doi.org/10.3828/..
 
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14

MSH3 modifies somatic instability and disease severity in H..:

Flower, Michael ; Lomeikaite, Vilija ; Ciosi, Marc...
info:eu-repo/semantics/altIdentifier/doi/10.1093/brain/awz115.  , 2019
Link: https://hal.sorbonne-uni..
 
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15

MSH3 modifies somatic instability and disease severity in H..:

Flower, Michael ; Lomeikaite, Vilija ; Ciosi, Marc...
https://acuresearchbank.acu.edu.au/item/8y77y/msh3-modifies-somatic-instability-and-disease-severity-in-huntington-s-and-myotonic-dystrophy-type-1.  , 2019
Link: https://acuresearchbank...
 
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