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Journal of Applied Genetics
|
April 24, 2026
Artificial intelligence in neurofibromatosis type I: diagnostic and therapeutic opportunities
Jagoda Błaszkiewicz, Agnieszka Madej-Pilarczyk, Elżbieta Ciara
Genes
|
December 3, 2020
Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series
Karolina M Stepien, Elżbieta Ciara, Aleksandra Jezela-Stanek
International Journal of Molecular Sciences
|
July 2, 2020
Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series
Aleksandra Jezela-Stanek, Elżbieta Ciara, Karolina M Stepien
Postepy Biochemii
|
August 11, 2021
Citrin deficiency – pathogenesis, clinical and biochemical manifestation, diagnostics, treatment
Patryk Lipiński, Elżbieta Ciara, Ewa Ehmke Vel Emczyńska-Seliga, et al.
Journal of Applied Genetics
|
May 17, 2025
Riboflavin treatment in L-2-hydroxyglutaric aciduria: report on a pediatric patient and literature review
Patryk Lipiński, Elżbieta Ciara, Anna Bogdańska, et al.
Diagnostics (Basel, Switzerland)
|
August 27, 2021
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review
Patryk Lipiński, Karolina M Stępień, Elżbieta Ciara, et al.
International Journal of Pediatric Otorhinolaryngology
|
March 26, 2019
Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland
Katarzyna Iwanicka-Pronicka, Elżbieta Ciara, Dorota Piekutowska-Abramczuk, et al.
Kardiologia Polska
|
July 30, 2024
Carvajal syndrome related to two distinct molecular variants in desmoplakin gene
Lidia Ziółkowska, Dorota Piekutowska-Abramczuk, Karolina Borowiec, et al.
International Journal of Pediatric Otorhinolaryngology
|
November 14, 2021
Sensorineural hearing loss in GSD type I patients. A newly recognized symptomatic association of potential clinical significance and unclear pathomechanism
Katarzyna Iwanicka-Pronicka, Joanna Trubicka, Edyta Szymanska, et al.
Pediatric Neurology
|
February 12, 2011
Cryptic x; autosome translocation in a boy--delineation of the phenotype
Aleksandra Jezela-Stanek, Elżbieta Ciara, Marzena Juszczak, et al.
Page
of 9
Search research articles
Search
Showing results (1-10 of 85) with videos related to
Sort By:
Page
of 9
Journal of Applied Genetics
|
April 24, 2026
Artificial intelligence in neurofibromatosis type I: diagnostic and therapeutic opportunities
Jagoda Błaszkiewicz, Agnieszka Madej-Pilarczyk, Elżbieta Ciara
Genes
|
December 3, 2020
Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series
Karolina M Stepien, Elżbieta Ciara, Aleksandra Jezela-Stanek
International Journal of Molecular Sciences
|
July 2, 2020
Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series
Aleksandra Jezela-Stanek, Elżbieta Ciara, Karolina M Stepien
Postepy Biochemii
|
August 11, 2021
Citrin deficiency – pathogenesis, clinical and biochemical manifestation, diagnostics, treatment
Patryk Lipiński, Elżbieta Ciara, Ewa Ehmke Vel Emczyńska-Seliga, et al.
Journal of Applied Genetics
|
May 17, 2025
Riboflavin treatment in L-2-hydroxyglutaric aciduria: report on a pediatric patient and literature review
Patryk Lipiński, Elżbieta Ciara, Anna Bogdańska, et al.
Diagnostics (Basel, Switzerland)
|
August 27, 2021
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review
Patryk Lipiński, Karolina M Stępień, Elżbieta Ciara, et al.
International Journal of Pediatric Otorhinolaryngology
|
March 26, 2019
Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland
Katarzyna Iwanicka-Pronicka, Elżbieta Ciara, Dorota Piekutowska-Abramczuk, et al.
Kardiologia Polska
|
July 30, 2024
Carvajal syndrome related to two distinct molecular variants in desmoplakin gene
Lidia Ziółkowska, Dorota Piekutowska-Abramczuk, Karolina Borowiec, et al.
International Journal of Pediatric Otorhinolaryngology
|
November 14, 2021
Sensorineural hearing loss in GSD type I patients. A newly recognized symptomatic association of potential clinical significance and unclear pathomechanism
Katarzyna Iwanicka-Pronicka, Joanna Trubicka, Edyta Szymanska, et al.
Pediatric Neurology
|
February 12, 2011
Cryptic x; autosome translocation in a boy--delineation of the phenotype
Aleksandra Jezela-Stanek, Elżbieta Ciara, Marzena Juszczak, et al.
Page
of 9