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Malmgren, Helena
101  Ergebnisse:
Personensuche X
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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

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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3

Genome sequencing with comprehensive variant calling identi..:

Ek, Marlene ; Nilsson, Daniel ; Engvall, Martin...
Frontiers in Neurology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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4

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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5

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/..
 
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6

Detection of germline mosaicism in fathers of children with..:

Frisk, Sofia ; Wachtmeister, Alexandra ; Laurell, Tobias...
Molecular Genetics & Genomic Medicine.  10 (2022)  4 - p. , 2022
Link: https://doi.org/10.1002/..
 
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7

Multi‐omics analysis reveals multiple mechanisms causing Pr..:

Eisfeldt, Jesper ; Rezayee, Fatemah ; Pettersson, Maria...
Human Mutation.  43 (2022)  11 - p. 1567-1575 , 2022
Link: https://doi.org/10.1002/..
 
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8

Integration of whole genome sequencing into a healthcare se..:

Stranneheim, Henrik ; Lagerstedt-Robinson, Kristina ; Magnusson, Måns...
Genome Medicine.  13 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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9

Biallelic mutations in WRAP53 result in dysfunctional telom..:

Bergstrand, Sofie ; Böhm, Stefanie ; Malmgren, Helena...
Cell Death & Disease.  11 (2020)  4 - p. , 2020
Link: https://doi.org/10.1038/..
 
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10

From cytogenetics to cytogenomics: whole-genome sequencing ..:

Lindstrand, Anna ; Eisfeldt, Jesper ; Pettersson, Maria...
Genome Medicine.  11 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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11

The cerebellar phenotype of Charcot-Marie-Tooth neuropathy ..:

Skott, Humberto ; Muntean-Firanescu, Cristina ; Samuelsson, Kristin...
Cerebellum & Ataxias.  6 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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12

Front Cover:

Kvarnung, Malin ; Taylan, Fulya ; Nilsson, Daniel...
Clinical Genetics.  94 (2018)  6 - p. , 2018
Link: https://doi.org/10.1111/..
 
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13

Genomic screening in rare disorders: New mutations and phen..:

Kvarnung, Malin ; Taylan, Fulya ; Nilsson, Daniel...
Clinical Genetics.  94 (2018)  6 - p. 528-537 , 2018
Link: https://doi.org/10.1111/..
 
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14

A novel approach using long‐read sequencing and ddPCR to in..:

Wilbe, Maria ; Gudmundsson, Sanna ; Johansson, Josefin...
Prenatal Diagnosis.  37 (2017)  11 - p. 1146-1154 , 2017
Link: https://doi.org/10.1002/..
 
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15

Meiotic segregation analyses of reciprocal translocations i..:

Haapaniemi Kouru, Katarina ; Malmgren, Helena ; White, Irene..
Reproductive BioMedicine Online.  34 (2017)  6 - p. 645-652 , 2017
Link: https://doi.org/10.1016/..
 
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