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Thuresson, Ann-Charlotte
54  Ergebnisse:
Personensuche X
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1

P506: CLINICAL VALIDATION OF THE NORDIC GUIDELINES FOR GERM..:

Tesi, Bianca ; Eriksson, Anna ; Baskin, Berivan...
HemaSphere.  7 (2023)  S3 - p. e790629d , 2023
Link: https://doi.org/10.1097/..
 
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2

Proximal Deletion 12q with a New Insight to Growth Retardat..:

Sobol, Maria ; Thuresson, Ann-Charlotte ; Palmberg, Nathalie.
Molecular Syndromology.  11 (2020)  3 - p. 115-124 , 2020
Link: https://doi.org/10.1159/..
 
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3

SLC35A2-related congenital disorder of glycosylation: Defin..:

Yates, T. Michael ; Suri, Mohnish ; Desurkar, Archana...
European Journal of Paediatric Neurology.  22 (2018)  6 - p. 1095-1102 , 2018
Link: https://doi.org/10.1016/..
 
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4

Reduced cell surface levels of GPI-linked markers in a new ..:

Zhao, Jin James ; Halvardson, Jonatan ; Knaus, Alexej...
Human Mutation.  38 (2017)  10 - p. 1394-1401 , 2017
Link: https://doi.org/10.1002/..
 
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5

A maternal de novo non-reciprocal translocation results in ..:

Wentzel, Christian ; Annerén, Göran ; Thuresson, Ann-Charlotte
European Journal of Medical Genetics.  57 (2014)  6 - p. 259-263 , 2014
Link: https://doi.org/10.1016/..
 
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6

A novel microdeletion syndrome at 9q21.13 characterised by ..:

Boudry-Labis, Elise ; Demeer, Bénédicte ; Le Caignec, Cédric...
European Journal of Medical Genetics.  56 (2013)  3 - p. 163-170 , 2013
Link: https://doi.org/10.1016/..
 
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7

Genotype–phenotype analysis of 18q12.1-q12.2 copy number va..:

Wang, Peter ; Carrion, Prescilla ; Qiao, Ying...
European Journal of Medical Genetics.  56 (2013)  8 - p. 420-425 , 2013
Link: https://doi.org/10.1016/..
 
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8

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12...:

Becker, Kerstin ; Di Donato, Nataliya ; Holder-Espinasse, Muriel...
European Journal of Medical Genetics.  55 (2012)  8-9 - p. 490-497 , 2012
Link: https://doi.org/10.1016/..
 
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9

Unbalanced translocation 9;16 in two children with dysmorph..:

Zambrano, Regina M. ; Wohler, Elizabeth ; Annerén, Göran...
European Journal of Medical Genetics.  54 (2011)  2 - p. 189-193 , 2011
Link: https://doi.org/10.1016/..
 
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10

Genomic duplications mediate overexpression of lamin B1 in ..:

Schuster, Jens ; Sundblom, Jimmy ; Thuresson, Ann-Charlotte...
neurogenetics.  12 (2011)  1 - p. 65-72 , 2011
Link: https://doi.org/10.1007/..
 
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11

Investigation of gene dosage imbalances in patients with No..:

Nyström, Anna-Maja ; Ekvall, Sara ; Thuresson, Ann-Charlotte...
European Journal of Medical Genetics.  53 (2010)  3 - p. 117-121 , 2010
Link: https://doi.org/10.1016/..
 
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12

Profiling of copy number variations (CNVs) in healthy indiv..:

de Ståhl, Teresita Díaz ; Sandgren, Johanna ; Piotrowski, Arkadiusz...
Human Mutation.  29 (2008)  3 - p. 398-408 , 2008
Link: https://doi.org/10.1002/..
 
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13

Clinical variability of the 22q11.2 duplication syndrome:

Wentzel, Christian ; Fernström, Maria ; Öhrner, Ylva..
European Journal of Medical Genetics.  51 (2008)  6 - p. 501-510 , 2008
Link: https://doi.org/10.1016/..
 
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14

P3: Array-CGH for the identification of autism susceptibili..:

Mansouri, Mahmoud ; Thuresson, Ann-Charlotte ; Betancur, Catalina...
European Journal of Medical Genetics.  48 (2005)  4 - p. 449-450 , 2005
Link: https://doi.org/10.1016/..
 
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15

A 54-kDa Fragment of the Poly(A)-specific Ribonuclease Is a..:

Martı́nez, Javier ; Ren, Yan-Guo ; Thuresson, Ann-Charlotte...
Journal of Biological Chemistry.  275 (2000)  31 - p. 24222-24230 , 2000
Link: https://doi.org/10.1074/..
 
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