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Sorte, Hanne Sørmo
14  Ergebnisse:
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1

Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caus..:

Almaas, Runar ; Atneosen-Åsegg, Monica ; Ytre-Arne, Mari Eknes...
Journal of Hepatology.  79 (2023)  4 - p. 945-954 , 2023
Link: https://doi.org/10.1016/..
 
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2

Primary immunodeficiency diseases: Genomic approaches delin..:

Stray-Pedersen, Asbjørg ; Sorte, Hanne Sørmo ; Samarakoon, Pubudu...
Journal of Allergy and Clinical Immunology.  139 (2017)  1 - p. 232-245 , 2017
Link: https://doi.org/10.1016/..
 
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3

cnvScan: a CNV screening and annotation tool to improve the..:

Samarakoon, Pubudu Saneth ; Sorte, Hanne Sørmo ; Stray-Pedersen, Asbjørg...
BMC Genomics.  17 (2016)  1 - p. , 2016
Link: https://doi.org/10.1186/..
 
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4

Identification of copy number variants from exome sequence ..:

Samarakoon, Pubudu Saneth ; Sorte, Hanne Sørmo ; Kristiansen, Bjørn Evert...
BMC Genomics.  15 (2014)  1 - p. , 2014
Link: https://doi.org/10.1186/..
 
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5

Second-Tier Next Generation Sequencing Integrated in Nation..:

Strand, Janne Maren ; Gul, Kiran Aftab ; Erichsen, Hans Christian...
http://urn.nb.no/URN:NBN:no-86321.  , 2021
Link: http://hdl.handle.net/10..
 
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6

A Nationwide Study of GATA2 Deficiency in Norway-the Majori..:

Jørgensen, Silje Fjellgård ; Buechner, Jochen ; Myhre, Anders E...
http://urn.nb.no/URN:NBN:no-92947.  , 2021
Link: http://hdl.handle.net/10..
 
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7

A Nationwide Study of GATA2 Deficiency in Norway-the Majori..:

Jørgensen, Silje Fjellgård ; Buechner, Jochen ; Myhre, Anders E...
Journal of Clinical Immunology.  , 2021
Link: https://hdl.handle.net/1..
 
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8

Biallelic variants in KIF14 cause intellectual disability w..:

Makrythanasis, Periklis ; Maroofian, Reza ; Stray-Pedersen, Asbjørg...
http://urn.nb.no/URN:NBN:no-74811.  , 2018
Link: http://hdl.handle.net/10..
 
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9

Primary immunodeficiency diseases: Genomic approaches delin..:

Stray-Pedersen, Asbjorg ; Sorte, Hanne Sormo ; Samarakoon, Pubudu...
10.1016/j.jaci.2016.05.042.  , 2017
Link: https://hdl.handle.net/2..
 
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10

Primary immunodeficiency diseases: Genomic approaches delin..:

Stray-Pedersen, Asbjørg ; Sorte, Hanne Sørmo ; Samarakoon, Pubudu Saneth...
Samarakoon, Pubudu Saneth (2017) Computational prediction of diseasecausing CNVs from exome sequence data. Doctoral thesis. http://urn.nb.no/URN:NBN:no-57637.  , 2017
Link: http://hdl.handle.net/10..
 
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11

Primary immunodeficiency diseases: Genomic approaches delin..:

Stray-Pedersen, Asbjørg ; Sorte, Hanne Sørmo ; Samarakoon, Pubudu...
qt8188960d.  , 2017
Link: https://escholarship.org..
 
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12

Primary immunodeficiency diseases: Genomic approaches delin..:

Stray-Pedersen, Asbjorg ; Sorte, Hanne Sormo ; Samarakoon, Pubudu...
https://hdl.handle.net/20.500.12645/10396.  , 2017
Link: https://hdl.handle.net/2..
 
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13

Exome Sequencing Fails to Identify the Genetic Cause of Aic..:

Lund, Caroline ; Striano, Pasquale ; Sorte, Hanne Sørmo...
https://portal.findresearcher.sdu.dk/da/publications/3239953b-733c-473d-81ee-bb40ff4184bf.  , 2016
Link: https://portal.findresea..
 
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14

P80 Diagnosis by sequencing: correction of misdiagnosis fro..:

Leidenroth, A. ; Sorte, H. Sørmo ; Gilfillan, G....
Neuromuscular Disorders.  22 (2012)  - p. S29 , 2012
Link: https://doi.org/10.1016/..
 
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