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Mateusz Biela
57  Ergebnisse:
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1

A novel non‐recurrent CNV deletion involving TBX4 and leavi..:

Bzdęga, Katarzyna ; Biela, Mateusz ; Deutsch, Gail H....
Clinical Genetics.  105 (2023)  2 - p. 190-195 , 2023
Link: https://doi.org/10.1111/..
 
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2

COVID-19 mRNA BNT162b2 vaccine safety and B-cell and T-cell..:

Ludwikowska, Kamila M. ; Popiel, Aneta ; Matkowska-Kocjan, Agnieszka...
Vaccine.  41 (2023)  13 - p. 2289-2299 , 2023
Link: https://doi.org/10.1016/..
 
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3

COVID-19 mRNA BNT162b2 vaccine immunogenicity among childre..:

Ludwikowska, Kamila M. ; Popiel, Aneta ; Matkowska-Kocjan, Agnieszka...
Vaccine.  41 (2023)  21 - p. 3317-3327 , 2023
Link: https://doi.org/10.1016/..
 
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4

Destabilization of mutated human PUS3 protein causes intell..:

Lin, Ting‐Yu ; Smigiel, Robert ; Kuzniewska, Bozena...
Human Mutation.  43 (2022)  12 - p. 2063-2078 , 2022
Link: https://doi.org/10.1002/..
 
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5

Prenatal Diagnosis of Jeune Syndrome Caused by Compound Het..:

Stembalska, Agnieszka ; Rydzanicz, Małgorzata ; Klaniewska, Magdalena...
Genes.  13 (2022)  8 - p. 1339 , 2022
Link: https://doi.org/10.3390/..
 
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6

Further Delineation of Developmental Delay with Gastrointes..:

Biela, Mateusz ; Rydzanicz, Malgorzata ; Jankowska, Agnieszka...
Genes.  13 (2022)  2 - p. 168 , 2022
Link: https://doi.org/10.3390/..
 
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7

Severe Infantile Axonal Neuropathy with Respiratory Failure..:

Stembalska, Agnieszka ; Rydzanicz, Małgorzata ; Walas, Wojciech...
Genes.  13 (2022)  5 - p. 725 , 2022
Link: https://doi.org/10.3390/..
 
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8

Variants of ATP1A3 in residue 756 cause a separate phenotyp..:

Biela, Mateusz ; Rydzanicz, Malgorzata ; Szymanska, Krystyna...
Molecular Genetics & Genomic Medicine.  9 (2021)  9 - p. , 2021
Link: https://doi.org/10.1002/..
 
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9

Case Report: Further Delineation of Neurological Symptoms i..:

Klaniewska, Magdalena ; Jedrzejowska, Maria ; Rydzanicz, Malgorzata...
Frontiers in Genetics.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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10

Distinct characteristics of multisystem inflammatory syndro..:

Ludwikowska, Kamila Maria ; Okarska-Napierała, Magdalena ; Dudek, Natalia...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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11

Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Jo..:

Stembalska, Agnieszka ; Rydzanicz, Małgorzata ; Pollak, Agnieszka...
Genes.  12 (2021)  7 - p. 1078 , 2021
Link: https://doi.org/10.3390/..
 
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12

Single median maxillary central incisor syndrome and varian..:

Zatoński, Tomasz ; Pazdro-Zastawny, Katarzyna ; Morawska-Kochman, Monika...
International Journal of Pediatric Otorhinolaryngology.  134 (2020)  - p. 110038 , 2020
Link: https://doi.org/10.1016/..
 
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13

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neon..:

Śmigiel, Robert ; Biela, Mateusz ; Szmyd, Krzysztof...
Journal of Clinical Medicine.  9 (2020)  7 - p. 2220 , 2020
Link: https://doi.org/10.3390/..
 
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14

Novel de novo mutation affecting two adjacent aminoacids in..:

Smigiel, Robert ; Biernacka, Anna ; Biela, Mateusz...
Journal of Human Genetics.  63 (2018)  4 - p. 517-520 , 2018
Link: https://doi.org/10.1038/..
 
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15

Further Delineation of Developmental Delay with Gastrointes..:

Mateusz Biela ; Malgorzata Rydzanicz ; Agnieszka Jankowska...
https://www.mdpi.com/2073-4425/13/2/168.  , 2022
Link: https://doi.org/10.3390/..
 
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