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Piotr Gasperowicz

Showing results (11-20 of 27) with videos related to

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Frontiers in Pediatrics|December 20, 2021
Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity <i>MYCN</i> Mutation: A Case ReportMagdalena Klaniewska, Krystian Toczewski, Anna Rozensztrauch, et al.
Folia Neuropathologica|October 7, 2017
A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlationAgnieszka A Koppolu, Agnieszka Madej-Pilarczyk, Małgorzata Rydzanicz, et al.
Scientific Reports|June 15, 2017
Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathyGrażyna T Truszkowska, Zofia T Bilińska, Angelika Muchowicz, et al.
Genes|May 28, 2022
Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked <i>LAS1L</i> GeneAgnieszka Stembalska, Małgorzata Rydzanicz, Wojciech Walas, et al.
American Journal of Medical Genetics. Part A|June 7, 2017
Co-occurrence of Jalili syndrome and muscular overgrowthAnna Wawrocka, Joanna Walczak-Sztulpa, Magdalena Badura-Stronka, et al.
Clinical Genetics|June 26, 2018
Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardationJacek Pilch, Agnieszka A Koppolu, Anna Walczak, et al.
European Journal of Medical Genetics|April 6, 2018
Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15Karolina Pesz, Victor Murcia Pienkowski, Agnieszka Pollak, et al.
Genes|November 25, 2023
Novel Loss of Function Variants in <i>CENPF</i> Including a Large Intragenic Deletion in Patients with Strømme SyndromeDoriana Misceo, Lokuliyanage Dona Samudita Senaratne, Inger-Lise Mero, et al.
Journal of Human Genetics|February 8, 2018
Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndromeRobert Smigiel, Anna Biernacka, Mateusz Biela, et al.
International Journal of Molecular Sciences|January 21, 2023
Allogenic Adipose-Derived Stem Cells in Diabetic Foot Ulcer Treatment: Clinical Effectiveness, Safety, Survival in the Wound Site, and Proteomic ImpactBeata Mrozikiewicz-Rakowska, Ilona Szabłowska-Gadomska, Dominik Cysewski, et al.
Pageof 3

Showing results (11-20 of 27) with videos related to

Sort By:
Pageof 3
Frontiers in Pediatrics|December 20, 2021
Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity <i>MYCN</i> Mutation: A Case ReportMagdalena Klaniewska, Krystian Toczewski, Anna Rozensztrauch, et al.
Folia Neuropathologica|October 7, 2017
A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlationAgnieszka A Koppolu, Agnieszka Madej-Pilarczyk, Małgorzata Rydzanicz, et al.
Scientific Reports|June 15, 2017
Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathyGrażyna T Truszkowska, Zofia T Bilińska, Angelika Muchowicz, et al.
Genes|May 28, 2022
Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked <i>LAS1L</i> GeneAgnieszka Stembalska, Małgorzata Rydzanicz, Wojciech Walas, et al.
American Journal of Medical Genetics. Part A|June 7, 2017
Co-occurrence of Jalili syndrome and muscular overgrowthAnna Wawrocka, Joanna Walczak-Sztulpa, Magdalena Badura-Stronka, et al.
Clinical Genetics|June 26, 2018
Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardationJacek Pilch, Agnieszka A Koppolu, Anna Walczak, et al.
European Journal of Medical Genetics|April 6, 2018
Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15Karolina Pesz, Victor Murcia Pienkowski, Agnieszka Pollak, et al.
Genes|November 25, 2023
Novel Loss of Function Variants in <i>CENPF</i> Including a Large Intragenic Deletion in Patients with Strømme SyndromeDoriana Misceo, Lokuliyanage Dona Samudita Senaratne, Inger-Lise Mero, et al.
Journal of Human Genetics|February 8, 2018
Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndromeRobert Smigiel, Anna Biernacka, Mateusz Biela, et al.
International Journal of Molecular Sciences|January 21, 2023
Allogenic Adipose-Derived Stem Cells in Diabetic Foot Ulcer Treatment: Clinical Effectiveness, Safety, Survival in the Wound Site, and Proteomic ImpactBeata Mrozikiewicz-Rakowska, Ilona Szabłowska-Gadomska, Dominik Cysewski, et al.
Pageof 3