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Kristina Lagerstedt-Robinson
141
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Online (141)
Mediatypes
Articles (Online) (58)
OpenAccess-fulltext (83)
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1
Novel findings in a Swedish primary familial brain calcific..:
Sennfält, Stefan
;
Gustavsson, Peter
;
Malmgren, Helena
...
Journal of the Neurological Sciences. 460 (2024) - p. 123020 , 2024
Link:
https://doi.org/10.1016/..
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2
Atypical Interference in Hb A1c Measurements Might Be Due t..:
Strålfors, Annelie
;
Lagerstedt-Robinson, Kristina
;
Landin, Britta
Clinical Chemistry. , 2024
Link:
https://doi.org/10.1093/..
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3
Genetic screening for Huntington disease phenocopies in Swe..:
Paucar, Martin
;
Laffita-Mesa, José
;
Niemelä, Valter
...
Journal of the Neurological Sciences. 451 (2023) - p. 120707 , 2023
Link:
https://doi.org/10.1016/..
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4
Genome sequencing is a sensitive first-line test to diagnos..:
Lindstrand, Anna
;
Ek, Marlene
;
Kvarnung, Malin
...
Pathology. 55 (2023) - p. S19-S20 , 2023
Link:
https://doi.org/10.1016/..
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5
Register-based and genetic studies of Prader-Willi syndrome..:
Maya-González, Carolina
;
Wessman, Sandra
;
Lagerstedt-Robinson, Kristina
...
Frontiers in Medicine. 10 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
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6
Tissue specific trisomy 15 mosaicism associated with urogen..:
Nordenskjöld, Agneta
;
Lagerstedt-Robinson, Kristina
;
Anderlid, Britt-Marie
.
European Journal of Medical Genetics. 66 (2023) 10 - p. 104824 , 2023
Link:
https://doi.org/10.1016/..
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7
Gustavson syndrome is caused by an in-frame deletion in RBM..:
Johansson, Josefin
;
Lidéus, Sarah
;
Frykholm, Carina
...
European Journal of Human Genetics. , 2023
Link:
https://doi.org/10.1038/..
?
8
Register-based and genetic studies of Prader-Willi syndrome..:
Carolina Maya-González
;
Sandra Wessman
;
Kristina Lagerstedt-Robinson
...
https://www.frontiersin.org/articles/10.3389/fmed.2023.1172565/full. , 2023
Link:
https://doi.org/10.3389/..
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9
Data_Sheet_1_Register-based and genetic studies of Prader-W..:
Carolina Maya-González
;
Sandra Wessman
;
Kristina Lagerstedt-Robinson
...
doi:10.3389/fmed.2023.1172565.s001. , 2023
Link:
https://doi.org/10.3389/..
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10
Table_1_Register-based and genetic studies of Prader-Willi ..:
Carolina Maya-González
;
Sandra Wessman
;
Kristina Lagerstedt-Robinson
...
doi:10.3389/fmed.2023.1172565.s002. , 2023
Link:
https://doi.org/10.3389/..
?
11
The genetic diagnosis of rare endocrine disorders of sex de..:
Persani, Luca
;
Cools, Martine
;
Ioakim, Stamatina
...
Endocrine Connections. 11 (2022) 12 - p. , 2022
Link:
https://doi.org/10.1530/..
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12
Genome sequencing is a sensitive first-line test to diagnos..:
Lindstrand, Anna
;
Ek, Marlene
;
Kvarnung, Malin
...
Genetics in Medicine. 24 (2022) 11 - p. 2296-2307 , 2022
Link:
https://doi.org/10.1016/..
?
13
Exome sequencing in a Swedish family with PMS2 mutation wit..:
Bryant, Patrick
;
Walton Bernstedt, Sophie
;
Thutkawkorapin, Jessada
...
European Journal of Cancer Prevention. 32 (2022) 2 - p. 113-118 , 2022
Link:
https://doi.org/10.1097/..
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14
X-linked Malformation Deafness: Neurodevelopmental Symptoms..:
Smeds, Henrik
;
Wales, Jeremy
;
Karltorp, Eva
...
Ear & Hearing. 43 (2022) 1 - p. 53-69 , 2022
Link:
https://doi.org/10.1097/..
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15
A retrospective two centre study of Birt-Hogg-Dubé syndrome..:
Lagerstedt-Robinson, Kristina
;
Baranowska Körberg, Izabella
;
Tsiaprazis, Stefanos
...
PLOS ONE. 17 (2022) 2 - p. e0264056 , 2022
Link:
https://doi.org/10.1371/..
1-15