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Pienkowski, Victor Murcia
41  Ergebnisse:
Personensuche X
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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/..
 
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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/..
 
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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/..
 
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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

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/..
 
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10

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/..
 
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11

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/..
 
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12

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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13

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/..
 
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14

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/..
 
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15

Novel calcineurin A (PPP3CA) variant associated with epilep..:

Rydzanicz, Małgorzata ; Wachowska, Małgorzata ; Cook, Erik C....
European Journal of Human Genetics.  27 (2018)  1 - p. 61-69 , 2018
Link: https://doi.org/10.1038/..
 
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