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11 . Academic Journal
Case Report: Lennox–Gastaut Epileptic Encephalopathy Responsive to Cannabidiol Treatment Associated With a Novel de novo Mosaic SHANK1 Variant
저자
by
Justyna Paprocka
;
Szymon Ziętkiewicz
;
Joanna Kosińska
;
Ewa Kaczorowska
;
Rafał Płoski
.
소스
Frontiers in Genetics, Vol 12 (2021)
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17 . Academic Journal
Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants
저자
by
Justyna Paprocka
;
Magdalena Nowak
;
Maria Nieć
;
Izabela Janik
;
Małgorzata Rydzanicz
, et al.
소스
Frontiers in Medicine, Vol 8 (2021)
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17 . Academic Journal
COQ8A-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency
저자
by
Justyna Paprocka
;
Magdalena Nowak
;
Piotr Chuchra
;
Robert Śmigiel
.
소스
Metabolites, Vol 12, Iss 10, p 955 (2022)
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16 . Academic Journal
Stroke-like Episodes in Inherited Neurometabolic Disorders
저자
by
Natalia Będkowska
;
Aneta Zontek
;
Justyna Paprocka
.
소스
Metabolites, Vol 12, Iss 10, p 929 (2022)
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15 . Academic Journal
A Dialogue in the Medical Perspective—Body Mass and Nutritional Status Disorders during the Development Period
저자
by
Karolina Kozioł
;
Beata Kazek
;
Dorota Sikora
;
Anna Brzóska
;
Justyna Paprocka
, et al.
소스
Children, Vol 9, Iss 9, p 1360 (2022)
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17 . Academic Journal
Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis
저자
by
Konrad Kaminiów
;
Sylwia Kozak
;
Justyna Paprocka
.
소스
International Journal of Molecular Sciences, Vol 23, Iss 10, p 5729 (2022)
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15 . Academic Journal
Gastrointestinal and Autonomic Symptoms—How to Improve the Diagnostic Process in Panayiotopoulos Syndrome?
저자
by
Aneta Zontek
;
Justyna Paprocka
.
소스
Children, Vol 9, Iss 6, p 814 (2022)
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14 . Academic Journal
Nonketotic Hyperglycinemia: Insight into Current Therapies
저자
by
Magdalena Nowak
;
Piotr Chuchra
;
Justyna Paprocka
.
소스
Journal of Clinical Medicine, Vol 11, Iss 11, p 3027 (2022)
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15 . Academic Journal
Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene
저자
by
Magdalena Klaniewska
;
Maria Jedrzejowska
;
Malgorzata Rydzanicz
;
Justyna Paprocka
;
Mateusz Biela
, et al.
소스
Frontiers in Genetics, Vol 12 (2021)
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17 . Academic Journal
Effectiveness of ACTH in Patients with Infantile Spasms
저자
by
Justyna Paprocka
;
Jakub Malkiewicz
;
Veronica Palazzo-Michalska
;
Barbara Nowacka
;
Mikołaj Kuźniak
, et al.
소스
Brain Sciences, Vol 12, Iss 2, p 254 (2022)
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