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Helen V Firth

Showing results (11-20 of 116) with videos related to

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Prenatal Diagnosis|March 28, 2007
Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasoundSimon Holden, Sapna Ahuja, Amanda Ogilvy-Stuart, et al.
American Journal of Human Genetics|October 1, 2024
Phenotypic spectrum of dual diagnoses in developmental disordersAlys M Ridsdale, Anna Dickerson, V Kartik Chundru, et al.
Annual Review of Genomics and Human Genetics|June 7, 2023
DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical DataJulia Foreman, Daniel Perrett, Erica Mazaika, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 28, 2022
Importance of adopting standardized MANE transcripts in clinical reportingCaroline F Wright, David R FitzPatrick, James S Ware, et al.
Genetics in Medicine Open|September 30, 2024
Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD studyRuth Y Eberhardt, Caroline F Wright, David R FitzPatrick, et al.
Journal of Medical Genetics|January 19, 2026
How do clinician and parent-reported data differ? An analysis of similarity and difference in the datasets from a cross-syndrome genetics cohort study (GenROC)Karen Jaqueline Low, Huw Day, Mevmi Lasanya Kodippuli Thanthilla, et al.
Clinical Medicine (London, England)|July 17, 2019
Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcareKatherine S Josephs, Alison Berner, Angela George, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromesAnne Goriely, Helen Lord, Jasmine Lim, et al.
HGG Advances|December 23, 2022
IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disordersStuart Aitken, Helen V Firth, Caroline F Wright, et al.
BMJ (Clinical Research Ed.)|March 5, 2024
Challenges of using whole genome sequencing in population newborn screeningRachel Horton, Caroline F Wright, Helen V Firth, et al.
Pageof 12

Showing results (11-20 of 116) with videos related to

Sort By:
Pageof 12
Prenatal Diagnosis|March 28, 2007
Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasoundSimon Holden, Sapna Ahuja, Amanda Ogilvy-Stuart, et al.
American Journal of Human Genetics|October 1, 2024
Phenotypic spectrum of dual diagnoses in developmental disordersAlys M Ridsdale, Anna Dickerson, V Kartik Chundru, et al.
Annual Review of Genomics and Human Genetics|June 7, 2023
DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical DataJulia Foreman, Daniel Perrett, Erica Mazaika, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 28, 2022
Importance of adopting standardized MANE transcripts in clinical reportingCaroline F Wright, David R FitzPatrick, James S Ware, et al.
Genetics in Medicine Open|September 30, 2024
Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD studyRuth Y Eberhardt, Caroline F Wright, David R FitzPatrick, et al.
Journal of Medical Genetics|January 19, 2026
How do clinician and parent-reported data differ? An analysis of similarity and difference in the datasets from a cross-syndrome genetics cohort study (GenROC)Karen Jaqueline Low, Huw Day, Mevmi Lasanya Kodippuli Thanthilla, et al.
Clinical Medicine (London, England)|July 17, 2019
Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcareKatherine S Josephs, Alison Berner, Angela George, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromesAnne Goriely, Helen Lord, Jasmine Lim, et al.
HGG Advances|December 23, 2022
IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disordersStuart Aitken, Helen V Firth, Caroline F Wright, et al.
BMJ (Clinical Research Ed.)|March 5, 2024
Challenges of using whole genome sequencing in population newborn screeningRachel Horton, Caroline F Wright, Helen V Firth, et al.
Pageof 12