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Pienkowski, Victor Murcia
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Online (41)
Mediatypes
Articles (Online) (22)
OpenAccess-fulltext (19)
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1
Macrocephaly and developmental delay caused by missense var..:
Koop, Klaas
;
Yuan, Weimin
;
Tessadori, Federico
...
Human Molecular Genetics. 32 (2023) 21 - p. 3063-3077 , 2023
Link:
https://doi.org/10.1093/..
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2
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/..
?
3
TADeus2: a web server facilitating the clinical diagnosis b..:
Poszewiecka, Barbara
;
Pienkowski, Victor Murcia
;
Nowosad, Karol
...
Nucleic Acids Research. 50 (2022) W1 - p. W744-W752 , 2022
Link:
https://doi.org/10.1093/..
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4
Whole exome sequencing identifies a homozygous POLG2 missen..:
Dosekova, Petra
;
Dubiel, Andrzej
;
Karlowicz, Anna
...
European Journal of Medical Genetics. 63 (2020) 4 - p. 103821 , 2020
Link:
https://doi.org/10.1016/..
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5
Answer to Finsterer about "Multisystem presentation of a ho..:
Dosekova, Petra
;
Dubiel, Andrzej
;
Karlowicz, Anna
...
European Journal of Medical Genetics. 63 (2020) 5 - p. 103900 , 2020
Link:
https://doi.org/10.1016/..
?
6
A study in a Polish ataxia cohort indicates genetic heterog..:
Krygier, Magdalena
;
Kwarciany, Mariusz
;
Wasilewska, Krystyna
...
Clinical Genetics. 95 (2019) 3 - p. 415-419 , 2019
Link:
https://doi.org/10.1111/..
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7
Phenotypic consequences of gene disruption by a balanced de..:
Pesz, Karolina
;
Pienkowski, Victor Murcia
;
Pollak, Agnieszka
...
European Journal of Medical Genetics. 61 (2018) 10 - p. 596-601 , 2018
Link:
https://doi.org/10.1016/..
?
8
Cryptic MYC insertions in Burkitt lymphoma: New data and a ..:
Woroniecka, Renata
;
Rymkiewicz, Grzegorz
;
Szafron, Lukasz M.
...
PLOS ONE. 17 (2022) 2 - p. e0263980 , 2022
Link:
https://doi.org/10.1371/..
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9
Developmental delay with hypotrophy associated with homozyg..:
Halas, Agnieszka
;
Fijak-Moskal, Jolanta
;
Kuberska, Renata
...
Journal of Molecular Medicine. 99 (2021) 3 - p. 415-423 , 2021
Link:
https://doi.org/10.1007/..
?
10
Gene Expression Profile of Human Mesenchymal Stromal Cells ..:
Zielniok, Katarzyna
;
Burdzinska, Anna
;
Murcia Pienkowski, Victor
...
International Journal of Molecular Sciences. 22 (2021) 15 - p. 8160 , 2021
Link:
https://doi.org/10.3390/..
?
11
De novo stop-loss variants in CLDN11 cause hypomyelinating ..:
Riedhammer, Korbinian M
;
Stockler, Sylvia
;
Ploski, Rafal
...
Brain. 144 (2020) 2 - p. 411-419 , 2020
Link:
https://doi.org/10.1093/..
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12
Breakpoint Mapping of Symptomatic Balanced Translocations L..:
Murcia Pienkowski, Victor
;
Kucharczyk, Marzena
;
Rydzanicz, Małgorzata
...
Journal of Clinical Medicine. 9 (2020) 5 - p. 1245 , 2020
Link:
https://doi.org/10.3390/..
?
13
Syndromic chorioretinal coloboma associated with heterozygo..:
Jakubiuk‐Tomaszuk, Anna
;
Murcia Pienkowski, Victor
;
Zietkiewicz, Szymon
...
Clinical Genetics. 96 (2019) 4 - p. 371-375 , 2019
Link:
https://doi.org/10.1111/..
?
14
Novel COL12A1 variant as a cause of mild familial extracell..:
Jezela‐Stanek, Aleksandra
;
Walczak, Anna
;
Łaźniewski, Michał
...
Clinical Genetics. 95 (2019) 6 - p. 736-738 , 2019
Link:
https://doi.org/10.1111/..
?
15
Evidence for HNRNPH1 being another gene for Bain type syndr..:
Pilch, Jacek
;
Koppolu, Agnieszka A.
;
Walczak, Anna
...
Clinical Genetics. 94 (2018) 3-4 - p. 381-385 , 2018
Link:
https://doi.org/10.1111/..
1-15