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Mersiyanova, Irina
24  results:
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1

Novel SLFN14 mutation associated with macrothrombocytopenia..:

Polokhov, Dmitrii ; Fedorova, Daria ; Ignatova, Anastasiya...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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2

Comparison of disease phenotypes and mechanistic insight on..:

Chen, Liang ; Mamutova, Anna ; Kozlova, Anna...
Journal of Allergy and Clinical Immunology.  152 (2023)  3 - p. 771-782 , 2023
Link: https://doi.org/10.1016/..
 
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3

Cancer‐causingMAP2K1mutation in a mosaic patient with cardi..:

Zakharova, Victorya ; Raykina, Elena ; Mersiyanova, Irina...
Human Mutation.  43 (2022)  12 - p. 1852-1855 , 2022
Link: https://doi.org/10.1002/..
 
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4

Update on the genetic landscape of Diamond‐Blackfan anemia ..:

Pavlova, Anna V. ; Ovsyannikova, Galina S. ; Kurnikova, Maria A....
Pediatric Blood & Cancer.  67 (2020)  11 - p. , 2020
Link: https://doi.org/10.1002/..
 
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5

Clinical and genomic heterogeneity of Diamond Blackfan anem..:

Smetanina, Natalia S. ; Mersiyanova, Irina V. ; Kurnikova, Maria A....
Pediatric Blood & Cancer.  62 (2015)  9 - p. 1597-1600 , 2015
Link: https://doi.org/10.1002/..
 
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6

Mutations in the mitochondrial GTPase mitofusin 2 cause Cha..:

Züchner, Stephan ; Mersiyanova, Irina V ; Muglia, Maria...
Nature Genetics.  36 (2004)  5 - p. 449-451 , 2004
Link: https://doi.org/10.1038/..
 
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7

Screening for mutations in the peripheral myelin genesPMP22..:

Mersiyanova, Irina V. ; Ismailov, Sookhrat M. ; Polyakov, Alexandr V....
Human Mutation.  15 (2000)  4 - p. 340-347 , 2000
Link: https://doi.org/10.1002/..
 
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8

Screening for mutations in the peripheral myelin genes PMP2..:

Mersiyanova, Irina V. ; Ismailov, Sookhrat M. ; Polyakov, Alexandr V....
Human Mutation.  15 (2000)  4 - p. 340 , 2000
Link: https://doi.org/10.1002/..
 
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9

Novel SLFN14 mutation associated with macrothrombocytopenia..:

Polokhov, Dmitrii ; Fedorova, Daria ; Ignatova, Anastasiya...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10091655/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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10

Genetic, immunological, and clinical features of 32 patient..:

Le Voyer, Tom ; Sonoko, Sakata ; Tsumura, Miyuki...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8702442/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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11

Genetic, immunological, and clinical features of 32 patient..:

Voyer, Tom Le ; Sakata, Sonoko ; Tsumura, Miyuki...
https://pure.au.dk/portal/da/publications/genetic-immunological-and-clinical-features-of-32-patients-with-autosomal-recessive-stat1-deficiency(3a9ed240-2372-4917-975a-50998893f020).html.  , 2021
Link: https://pure.au.dk/porta..
 
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12

The clinical and genetic spectrum of 82 patients with RAG d..:

Sharapova, Svetlana ; Skomska-Pawliszak, Małgorzata ; Rodina, Yulia...
Frontiers in Immunology, T. 11.  , 2020
Link: https://ruj.uj.edu.pl/xm..
 
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13

The clinical and genetic spectrum of 82 patients with RAG d..:

Sharapova, Svetlana O ; Skomska-Pawliszak, Małgorzata ; Rodina, Yulia A...
info:eu-repo/semantics/altIdentifier/doi/10.3389/fimmu.2020.00900.  , 2020
Link: http://vu.oai.elaba.lt/d..
 
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14

The clinical and genetic spectrum of 82 patients with RAG d..:

Sharapova, Svetlana O ; Skomska-Pawliszak, Małgorzata ; Rodina, Yulia A...
info:eu-repo/semantics/altIdentifier/doi/10.3389/fimmu.2020.00900.  , 2020
Link: https://repository.vu.lt..
 
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15

The clinical and genetic spectrum of 82 patients with RAG d..:

Sharapova, Svetlana O ; Skomska-Pawliszak, Małgorzata ; Rodina, Yulia A...
info:eu-repo/semantics/altIdentifier/doi/10.3389/fimmu.2020.00900.  , 2020
Link: http://vu.oai.elaba.lt/d..
 
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