E-LIB Suche - Ergebnisse für: Muona, Mikko

1

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/..

2

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/..

3

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/..

4

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/..

5

P465: The occurrence of noncoding variants, copy number var..:

Gall, Kimberly ; Hathaway, Julie ; Howell, Victoria...
Genetics in Medicine Open. 1 (2023) 1 - p. 100512 , 2023

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

6

Elucidating the relationship between migraine risk and brai..:

Mitchell, Brittany L ; Diaz-Torres, Santiago ; Bivol, Svetlana...
Brain. 145 (2022) 9 - p. 3214-3224 , 2022

Link: https://doi.org/10.1093/..

7

Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselec..:

Tuupanen, Sari ; Gall, Kimberly ; Sistonen, Johanna...
Translational Vision Science & Technology. 11 (2022) 1 - p. 6 , 2022

Link: https://doi.org/10.1167/..

8

Biallelic ADAM22 pathogenic variants cause progressive ence..:

van der Knoop, Marieke M ; Maroofian, Reza ; Fukata, Yuko...
Brain. 145 (2022) 7 - p. 2301-2312 , 2022

Link: https://doi.org/10.1093/..

9

CDK19-related disorder results from both loss-of-function a..:

Zarate, Yuri A. ; Uehara, Tomoko ; Abe, Kota...
Genetics in Medicine. 23 (2021) 6 - p. 1050-1057 , 2021

Link: https://doi.org/10.1038/..

10

Nucleocytoplasmic transport of the RNA-binding protein CELF..:

MacPherson, Melissa J. ; Erickson, Sarah L. ; Kopp, Drayden...
Cell Reports. 35 (2021) 10 - p. 109226 , 2021

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

11

Diagnostic yield of genetic testing in a heterogeneous coho..:

Hathaway, Julie ; Heliö, Krista ; Saarinen, Inka...
BMC Cardiovascular Disorders. 21 (2021) 1 - p. , 2021

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

12

Biallelic NRAP variants are a significant cause of dilated ..:

Gall, Kim ; Koskenvuo, Juha ; Saarinen, Inka...
Molecular Genetics and Metabolism. 132 (2021) - p. S220 , 2021

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

13

Biallelic loss-of-function in NRAP is a cause of recessive ..:

Koskenvuo, Juha W. ; Saarinen, Inka ; Ahonen, Saija...
PLOS ONE. 16 (2021) 2 - p. e0245681 , 2021

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

14

GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP,..:

Heliö, Krista ; Mäyränpää, Mikko I. ; Saarinen, Inka...
Frontiers in Genetics. 12 (2021) - p. , 2021

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

15

Progressive Myoclonus Epilepsy Caused by a Homozygous Splic..:

Mazzola, Laure ; Oliver, Karen L. ; Labalme, Audrey...
Annals of Neurology. 89 (2020) 2 - p. 402-407 , 2020

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