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Miceikaite, Ieva
17  Ergebnisse:
Personensuche X
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1

Male with an apparently normal phenotype carrying a BRCA1 e..:

Block, Ines ; Mateu-Regué, Àngels ; Do, Thi Tuyet Nhu...
Breast Cancer Research.  26 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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2

nanoNIPT: Short‐fragment nanopore sequencing of cell‐free D..:

Jørgensen, Maria Winther ; Miceikaitė, Ieva ; Larsen, Martin J.
Prenatal Diagnosis.  43 (2023)  3 - p. 314-317 , 2023
Link: https://doi.org/10.1002/..
 
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3

Comprehensive prenatal diagnostics: Exome versus genome seq..:

Miceikaite, Ieva ; Fagerberg, Christina ; Brasch‐Andersen, Charlotte...
Prenatal Diagnosis.  43 (2023)  9 - p. 1132-1141 , 2023
Link: https://doi.org/10.1002/..
 
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4

Epileptic encephalopathy caused by ARV1 deficiency: Refinem..:

Salian, Smrithi ; Scala, Marcello ; Nguyen, Thi Tuyet Mai...
Clinical Genetics.  100 (2021)  5 - p. 607-614 , 2021
Link: https://doi.org/10.1111/..
 
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5

Total number of reads affects the accuracy of fetal fractio..:

Miceikaitė, Ieva ; Brasch‐Andersen, Charlotte ; Fagerberg, Christina.
Molecular Genetics & Genomic Medicine.  9 (2021)  4 - p. , 2021
Link: https://doi.org/10.1002/..
 
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6

Prenatal cases with rare RIT1 variants causing severe fetal..:

Miceikaite, Ieva ; Bak, Geske Sidsel ; Larsen, Martin Jakob..
Clinical Case Reports.  9 (2021)  7 - p. , 2021
Link: https://doi.org/10.1002/..
 
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7

Chromosomal translocation disrupting the SMAD4 gene resulti..:

Aagaard, Katrine S. ; Brusgaard, Klaus ; Miceikaite, Ieva...
Molecular Genetics & Genomic Medicine.  8 (2020)  11 - p. , 2020
Link: https://doi.org/10.1002/..
 
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8

Male with an apparently normal phenotype carrying a BRCA1 e..:

Block, Ines ; Mateu-Regué, Àngels ; Do, Thi Tuyet Nhu...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10775606/.  , 2024
Link: http://www.ncbi.nlm.nih...
 
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9

Total number of reads affects the accuracy of fetal fractio..:

Miceikaitė, Ieva ; Brasch-Andersen, Charlotte ; Fagerberg, Christina.
Miceikaitė , I , Brasch-Andersen , C , Fagerberg , C & Larsen , M J 2021 , ' Total number of reads affects the accuracy of fetal fraction estimates in NIPT ' , Molecular Genetics & Genomic Medicine , vol. 9 , no. 4 , e1653 . https://doi.org/10.1002/mgg3.1653.  , 2021
Link: https://portal.findresea..
 
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10

Prenatal cases with rare RIT1 variants causing severe fetal..:

Miceikaite, Ieva ; Bak, Geske Sidsel ; Larsen, Martin Jakob..
Miceikaite , I , Bak , G S , Larsen , M J , Kristiansen , B S & Torring , P M 2021 , ' Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death ' , Clinical Case Reports , vol. 9 , no. 7 , e04507 . https://doi.org/10.1002/ccr3.4507.  , 2021
Link: https://portal.findresea..
 
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11

Epileptic encephalopathy caused by ARV1 deficiency:refineme..:

Salian, Smrithi ; Scala, Marcello ; Nguyen, Thi Tuyet Mai...
Salian , S , Scala , M , Nguyen , T T M , Severino , M , Accogli , A , Amadori , E , Torella , A , Pinelli , M , Hudson , B , Boothe , M , Hurst , A , Ben-Omran , T , Larsen , M J , Fagerberg , C R , Sperling , L , Miceikaite , I , Herissant , L , Doco-Fenzy , M , Jennesson , M , Nigro , V , Striano , P , Minetti , C , Sachdev , R K , Palmer , E E , Capra , V & Campeau , P M 2021 , ' Epileptic encephalopathy caused by ARV1 deficiency : refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins ' , Clinical Genetics , vol. 100 , no. 5 , pp. 607-614 . https://doi.org/10.1111/cge.14033.  , 2021
Link: https://portal.findresea..
 
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12

Chromosomal translocation disrupting the SMAD4 gene resulti..:

Aagaard, Katrine S ; Brusgaard, Klaus ; Miceikaite, Ieva...
Aagaard , K S , Brusgaard , K , Miceikaite , I , Larsen , M J , Kjeldsen , A D , Lester , E B , Ousager , L B & Tørring , P M 2020 , ' Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia ' , Molecular Genetics and Genomic Medicine , vol. 8 , no. 11 , e1498 . https://doi.org/10.1002/mgg3.1498.  , 2020
Link: https://portal.findresea..
 
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13

Additional file 1 of Male with an apparently normal phenoty..:

Ines Block ; Àngels Mateu-Regué ; Thi Tuyet Nhu Do...
doi:10.6084/m9.figshare.24971361.v1.  , 2024
Link: https://doi.org/10.6084/..
 
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14

Male with an apparently normal phenotype carrying a BRCA1 e..:

Ines Block ; Àngels Mateu-Regué ; Thi Tuyet Nhu Do...
https://doi.org/10.1186/s13058-023-01755-9.  , 2024
Link: https://doi.org/10.1186/..
 
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15

Total number of reads affects the accuracy of fetal fractio..:

Ieva Miceikaitė ; Charlotte Brasch‐Andersen ; Christina Fagerberg.
https://doi.org/10.1002/mgg3.1653.  , 2021
Link: https://doi.org/10.1002/..
 
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