E-LIB Suche - Ergebnisse für: Koskinen, Lotta

1

P577: Genetic findings in afor cohort of over 1,800 patient..:

Hathaway, Julie ; Huusko, Johanna ; Cicerchia, Marcos...
Genetics in Medicine Open. 2 (2024) - p. 101483 , 2024

Link: https://doi.org/10.1016/..

2

P622: Genetic results in a cohort of 489 patients with inhe..:

Gall, Kim ; Hathaway, Julie ; Koskinen, Lotta...
Genetics in Medicine Open. 2 (2024) - p. 101528 , 2024

Link: https://doi.org/10.1016/..

3

Phenotypes of carriers of two mutated alleles in major canc..:

Laitman, Yael ; Niskakoski, Anni ; Bernstein-Molho, Rinal...
Breast Cancer Research and Treatment. , 2024

Link: https://doi.org/10.1007/..

4

P626: Clinical utility of structural variant calling using ..:

Koskinen, Lotta ; Andreevskaya, Margarita ; Muona, Mikko...
Genetics in Medicine Open. 2 (2024) - p. 101532 , 2024

Link: https://doi.org/10.1016/..

5

Diagnostic yield of genetic testing in a multinational hete..:

Heliö, Krista ; Cicerchia, Marcos ; Hathaway, Julie...
Frontiers in Cardiovascular Medicine. 10 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

6

P487: Genetic findings from multi-gene panel for primary ci..:

Howell, Victoria ; Huusko, Johanna ; Bernal, Manuel...
Genetics in Medicine Open. 1 (2023) 1 - p. 100534 , 2023

Link: https://doi.org/10.1016/..

7

P554: A case series of 17 patients with VEXAS syndrome due ..:

Scocchia, Alicia ; Sluyters, Allison ; Andreevskaya, Margarita...
Genetics in Medicine Open. 1 (2023) 1 - p. 100601 , 2023

Link: https://doi.org/10.1016/..

8

Genetic Findings from a Multigene Panel for Autoinflammator..:

Howell, Victoria ; Gall, Kimberly ; Scocchia, Alicia...
Clinical Immunology. 250 (2023) - p. 109395 , 2023

Link: https://doi.org/10.1016/..

9

Retrospective review of genetic testing for inherited bone ..:

Jacher, Joe ; Scocchia, Alicia ; Kokkonen, Päivi...
Molecular Genetics and Metabolism. 132 (2021) - p. S233-S234 , 2021

Link: https://doi.org/10.1016/..

10

Next-generation sequencing in childhood-onset epilepsies: D..:

Gall, Kimberly ; Izzo, Emanuela ; Seppälä, Eija H....
PLOS ONE. 16 (2021) 9 - p. e0255933 , 2021

Link: https://doi.org/10.1371/..

11

Diagnostic yield and clinical utility of genetic testing in..:

Liaquat, Khalida ; Gall, Kim ; Izzo, Emmanuela...
Molecular Genetics and Metabolism. 132 (2021) - p. S59 , 2021

Link: https://doi.org/10.1016/..

12

Diagnostic yield and clinical utility of genetic testing in..:

Singh, Akashdeep ; Gall, Kimberly ; Izzo, Emanuela...
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S100-S101 , 2021

Link: https://doi.org/10.1016/..

13

Utility of gene panel testing in children with seizure onse..:

Izzo, Emanuela ; Gall, Kimberly ; Alakurtti, Kirsi...
Molecular Genetics and Metabolism. 129 (2020) 2 - p. S80 , 2020

Link: https://doi.org/10.1016/..

14

Episodic Ataxia Secondary to CEP290 Compound Heterozygous M..:

Hamed, Moath ; Shetty, Aakash ; Dzwiniel, Tara...
Movement Disorders Clinical Practice. 7 (2019) 1 - p. 104-106 , 2019

Link: https://doi.org/10.1002/..

15

IL23R in the Swedish, Finnish, Hungarian and Italian popula..:

Einarsdottir, Elisabet ; Koskinen, Lotta LE ; Dukes, Emma...
BMC Medical Genetics. 10 (2009) 1 - p. , 2009

Link: https://doi.org/10.1186/..