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Jenny Carmichael

Showing results (11-20 of 24) with videos related to

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Journal of Medical Genetics|April 18, 2025
Phenotypic heterogeneity in <i>DYNC2H1</i>-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomesNikhil Pattani, Nour Elkhateeb, Aakash Joshi, et al.
Nature|May 11, 2022
Genetic and chemotherapeutic influences on germline hypermutationJoanna Kaplanis, Benjamin Ide, Rashesh Sanghvi, et al.
Human Molecular Genetics|May 22, 2024
PSMC5 insufficiency and P320R mutation impair proteasome functionZhong-Qiu Yu, Jenny Carmichael, Galen A Collins, et al.
Journal of Medical Genetics|October 30, 2021
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes ProjectSunayna Best, Jenny Lord, Matthew Roche, et al.
Bioconjugate Chemistry|March 15, 2011
Site-specific conjugation of monodispersed DOTA-PEGn to a thiolated diabody reveals the effect of increasing peg size on kidney clearance and tumor uptake with improved 64-copper PET imagingLin Li, Desiree Crow, Fabio Turatti, et al.
European Journal of Medical Genetics|February 1, 2023
Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patientsAsma Hamad, Charlotte A Sherlaw-Sturrock, Kate Glover, et al.
Clinical Genetics|March 13, 2019
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndromeAlistair T Pagnamenta, Pamela J Kaisaki, Fenella Bennett, et al.
American Journal of Human Genetics|January 3, 2017
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal DiseaseKeren J Carss, Gavin Arno, Marie Erwood, et al.
Prenatal Diagnosis|November 3, 2017
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencingKaren L Stals, Matthew Wakeling, Júlia Baptista, et al.
Clinical Genetics|May 11, 2023
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrumAlessandra Rossi, Lot Snijders Blok, Sonja Neuser, et al.
Pageof 3

Showing results (11-20 of 24) with videos related to

Sort By:
Pageof 3
Journal of Medical Genetics|April 18, 2025
Phenotypic heterogeneity in <i>DYNC2H1</i>-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomesNikhil Pattani, Nour Elkhateeb, Aakash Joshi, et al.
Nature|May 11, 2022
Genetic and chemotherapeutic influences on germline hypermutationJoanna Kaplanis, Benjamin Ide, Rashesh Sanghvi, et al.
Human Molecular Genetics|May 22, 2024
PSMC5 insufficiency and P320R mutation impair proteasome functionZhong-Qiu Yu, Jenny Carmichael, Galen A Collins, et al.
Journal of Medical Genetics|October 30, 2021
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes ProjectSunayna Best, Jenny Lord, Matthew Roche, et al.
Bioconjugate Chemistry|March 15, 2011
Site-specific conjugation of monodispersed DOTA-PEGn to a thiolated diabody reveals the effect of increasing peg size on kidney clearance and tumor uptake with improved 64-copper PET imagingLin Li, Desiree Crow, Fabio Turatti, et al.
European Journal of Medical Genetics|February 1, 2023
Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patientsAsma Hamad, Charlotte A Sherlaw-Sturrock, Kate Glover, et al.
Clinical Genetics|March 13, 2019
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndromeAlistair T Pagnamenta, Pamela J Kaisaki, Fenella Bennett, et al.
American Journal of Human Genetics|January 3, 2017
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal DiseaseKeren J Carss, Gavin Arno, Marie Erwood, et al.
Prenatal Diagnosis|November 3, 2017
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencingKaren L Stals, Matthew Wakeling, Júlia Baptista, et al.
Clinical Genetics|May 11, 2023
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrumAlessandra Rossi, Lot Snijders Blok, Sonja Neuser, et al.
Pageof 3