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1 . Academic Journal
Clinical and molecular characteristics of Kabuki syndrome patients with missense variants—novel features and literature review
저자
by
Snir Boniel
;
Maria Krajewska
;
Beata Pyrżak
;
Monika Paluchowska
;
Anna Majcher
, et al.
소스
Frontiers in Genetics, Vol 15 (2024)
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7 . Academic Journal
The case of fatal acute hemorrhagic necrotizing encephalitis in a two-month-old boy with Covid-19.
저자
by
Magdalena Mierzewska-Schmidt
;
Artur Baranowski
;
Krystyna Szymanska
;
Michal Ciaston
;
Ernest Kuchar
, et al.
소스
International Journal of Infectious Diseases, Vol 116, Iss , Pp 151-153 (2022)
Full Text (ScienceDirect)
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7 . Academic Journal
FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood
저자
by
Magdalena Badura‐Stronka
;
Robert Śmigiel
;
Karolina Rutkowska
;
Krystyna Szymańska
;
Adam Sebastian Hirschfeld
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 10, Iss 4, Pp n/a-n/a (2022)
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7 . Academic Journal
POLG gene mutation. Clinico-neuropathological study
저자
by
Sylwia Tarka
;
Milena Laure-Kamionowska
;
Teresa Wierzba-Bobrowicz
;
Katarzyna Witulska
;
Elżbieta Ciara
, et al.
소스
Folia Neuropathologica, Vol 58, Iss 4, Pp 386-392 (2021)
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7 . Academic Journal
Authors’ response to Dr Finsterer's comment 'Exclude differentials before diagnosing SARS-CoV-2-associated acute hemorrhagic necrotizing encephalitis' (THEIJID-D-22-00008)
저자
by
Magdalena Mierzewska-Schmidt
;
Artur Baranowski
;
Krystyna Szymanska
;
Michal Ciaston
;
Ernest Kuchar
, et al.
소스
International Journal of Infectious Diseases, Vol 118, Iss , Pp 52-53 (2022)
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7 . Academic Journal
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review
저자
by
Mateusz Biela
;
Malgorzata Rydzanicz
;
Krystyna Szymanska
;
Karolina Pieniawska‐Smiech
;
Aleksandra Lewandowicz‐Uszynska
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)
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7 . Academic Journal
Clinico-pathological correlation in case of BRAT1 mutation
저자
by
Krystyna Szymańska
;
Milena Laure-Kamionowska
;
Krzysztof Szczałuba
;
Agnieszka Koppolu
;
Mariusz Furmanek
, et al.
소스
Folia Neuropathologica, Vol 56, Iss 4, Pp 362-371 (2018)
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7 . Academic Journal
Kabuki Syndrome—Clinical Review with Molecular Aspects
저자
by
Snir Boniel
;
Krystyna Szymańska
;
Robert Śmigiel
;
Krzysztof Szczałuba
.
소스
Genes, Vol 12, Iss 4, p 468 (2021)
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6 . Academic Journal
Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases
저자
by
Agnieszka Ługowska
;
Galina Baydakova
;
Alex Ilyushkina
;
Ekaterina Zakharova
;
Hanna Mierzewska
, et al.
소스
Diagnostics, Vol 11, Iss 2, p 320 (2021)
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7 .
A novel KEL c.1414‐1G>T allele in a polish patient with
anti‐Ku
antibody
저자
by
Monika Pelc‐Kłopotowska
;
Rafał Płoski
;
Krzysztof Szczałuba
;
Krystyna Szymańska
;
Małgorzata Rydzanicz
, et al.
소스
Transfusion
. 62
Full Text (Wiley)
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