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Louise C Pyle

Showing results (21-30 of 34) with videos related to

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Cancer Genetics|November 7, 2020
Lack of pathogenic germline DICER1 variants in males with testicular germ-cell tumorsLauren M Vasta, Mary L McMaster, Laura A Harney, et al.
Clinical Genetics|October 21, 2021
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 geneServi J C Stevens, Constance T R M Stumpel, Karin E M Diderich, et al.
European Urology|May 28, 2023
Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting GenesLouise C Pyle, Jung Kim, Jonathan Bradfield, et al.
Nature Genetics|June 13, 2017
Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumorZhaoming Wang, Katherine A McGlynn, Ewa Rajpert-De Meyts, et al.
Pediatrics|June 1, 2022
Clinical Effectiveness of Telemedicine-Based Pediatric Genetics CareKatherine M Szigety, Terrence B Crowley, Kimberly B Gaiser, et al.
JAMA Oncology|January 25, 2019
Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell TumorsSaud H AlDubayan, Louise C Pyle, Marija Gamulin, et al.
Human Genetics|April 3, 2021
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndromeDong Li, Michael E March, Paola Fortugno, et al.
Prenatal Diagnosis|November 14, 2024
Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal DiagnosisMaud Favier, Elise Brischoux-Boucher, Louise C Pyle, et al.
American Journal of Human Genetics|December 30, 2019
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital MalformationsJoel J Hughes, Ebba Alkhunaizi, Paul Kruszka, et al.
Plos Genetics|May 4, 2019
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in miceSarah J Garnai, Michelle L Brinkmeier, Ben Emery, et al.
Pageof 4

Showing results (21-30 of 34) with videos related to

Sort By:
Pageof 4
Cancer Genetics|November 7, 2020
Lack of pathogenic germline DICER1 variants in males with testicular germ-cell tumorsLauren M Vasta, Mary L McMaster, Laura A Harney, et al.
Clinical Genetics|October 21, 2021
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 geneServi J C Stevens, Constance T R M Stumpel, Karin E M Diderich, et al.
European Urology|May 28, 2023
Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting GenesLouise C Pyle, Jung Kim, Jonathan Bradfield, et al.
Nature Genetics|June 13, 2017
Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumorZhaoming Wang, Katherine A McGlynn, Ewa Rajpert-De Meyts, et al.
Pediatrics|June 1, 2022
Clinical Effectiveness of Telemedicine-Based Pediatric Genetics CareKatherine M Szigety, Terrence B Crowley, Kimberly B Gaiser, et al.
JAMA Oncology|January 25, 2019
Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell TumorsSaud H AlDubayan, Louise C Pyle, Marija Gamulin, et al.
Human Genetics|April 3, 2021
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndromeDong Li, Michael E March, Paola Fortugno, et al.
Prenatal Diagnosis|November 14, 2024
Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal DiagnosisMaud Favier, Elise Brischoux-Boucher, Louise C Pyle, et al.
American Journal of Human Genetics|December 30, 2019
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital MalformationsJoel J Hughes, Ebba Alkhunaizi, Paul Kruszka, et al.
Plos Genetics|May 4, 2019
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in miceSarah J Garnai, Michelle L Brinkmeier, Ben Emery, et al.
Pageof 4