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Polona Le Quesne Stabej

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Endocrine Oncology (Bristol, England)|December 9, 2024
Alternative splicing generates isoform diversity in <i>MEN1</i>Anassuya Ramachandran, Polona Le Quesne Stabej, Veronica Boyle, et al.
Ophthalmology|November 9, 2013
Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutationEva Lenassi, Zubin Saihan, Valentina Cipriani, et al.
Orphanet Journal of Rare Diseases|August 9, 2013
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencingHeather B Steele-Stallard, Polona Le Quesne Stabej, Eva Lenassi, et al.
American Journal of Medical Genetics. Part A|January 19, 2026
Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non-Finnish PatientsIsaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, et al.
Orphanet Journal of Rare Diseases|February 9, 2017
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypesPolona Le Quesne Stabej, Chela James, Louise Ocaka, et al.
Retina (Philadelphia, Pa.)|April 14, 2011
Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing lossZubin Saihan, Polona Le Quesne Stabej, Anthony G Robson, et al.
JIMD Reports|October 9, 2015
Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6Emma S Reid, Hywel Williams, Polona Le Quesne Stabej, et al.
European Journal of Human Genetics : EJHG|November 5, 2023
Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidismPatrick Yap, Lisa G Riley, Purvi M Kakadia, et al.
European Journal of Human Genetics : EJHG|June 11, 2015
STAG3 truncating variant as the cause of primary ovarian insufficiencyPolona Le Quesne Stabej, Hywel J Williams, Chela James, et al.
Journal of Medical Genetics|December 3, 2011
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher StudyPolona Le Quesne Stabej, Zubin Saihan, Nell Rangesh, et al.
Pageof 3

Showing results (1-10 of 22) with videos related to

Sort By:
Pageof 3
Endocrine Oncology (Bristol, England)|December 9, 2024
Alternative splicing generates isoform diversity in <i>MEN1</i>Anassuya Ramachandran, Polona Le Quesne Stabej, Veronica Boyle, et al.
Ophthalmology|November 9, 2013
Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutationEva Lenassi, Zubin Saihan, Valentina Cipriani, et al.
Orphanet Journal of Rare Diseases|August 9, 2013
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencingHeather B Steele-Stallard, Polona Le Quesne Stabej, Eva Lenassi, et al.
American Journal of Medical Genetics. Part A|January 19, 2026
Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non-Finnish PatientsIsaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, et al.
Orphanet Journal of Rare Diseases|February 9, 2017
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypesPolona Le Quesne Stabej, Chela James, Louise Ocaka, et al.
Retina (Philadelphia, Pa.)|April 14, 2011
Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing lossZubin Saihan, Polona Le Quesne Stabej, Anthony G Robson, et al.
JIMD Reports|October 9, 2015
Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6Emma S Reid, Hywel Williams, Polona Le Quesne Stabej, et al.
European Journal of Human Genetics : EJHG|November 5, 2023
Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidismPatrick Yap, Lisa G Riley, Purvi M Kakadia, et al.
European Journal of Human Genetics : EJHG|June 11, 2015
STAG3 truncating variant as the cause of primary ovarian insufficiencyPolona Le Quesne Stabej, Hywel J Williams, Chela James, et al.
Journal of Medical Genetics|December 3, 2011
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher StudyPolona Le Quesne Stabej, Zubin Saihan, Nell Rangesh, et al.
Pageof 3