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Hannah Verdin

Showing results (11-20 of 36) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 15, 2014
Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletionKristof Van Schil, Françoise Meire, Marcus Karlstetter, et al.
Plos Genetics|March 22, 2013
Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domainHannah Verdin, Barbara D'haene, Diane Beysen, et al.
Human Reproduction (Oxford, England)|September 2, 2024
Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesisHannes Syryn, Julie Van de Velde, Griet De Clercq, et al.
Journal of Clinical Medicine|February 11, 2023
The Role of <i>MCM9</i> in the Etiology of Sertoli Cell-Only Syndrome and Premature Ovarian InsufficiencyIulia Potorac, Marie Laterre, Olivier Malaise, et al.
European Journal of Endocrinology|August 3, 2024
Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variantCécile Brachet, Alexander Laemmle, Martine Cools, et al.
Frontiers in Medicine|August 21, 2023
Paediatric cataract surgery with 27G vitrectomy instrumentation: the Ghent University Hospital ExperienceHwei Wuen Chan, Filip Van den Broeck, Axelle Cools, et al.
Scientific Reports|December 4, 2015
Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscapeHannah Verdin, Ana Fernández-Miñán, Sara Benito-Sanz, et al.
European Journal of Human Genetics : EJHG|January 9, 2014
Structural and numerical changes of chromosome X in patients with esophageal atresiaErwin Brosens, Elisabeth M de Jong, Tahsin Stefan Barakat, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 15, 2014
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophyFrauke Coppieters, Kristof Van Schil, Miriam Bauwens, et al.
Human Mutation|August 29, 2015
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1Frauke Coppieters, Anne Laure Todeschini, Takuro Fujimaki, et al.
Pageof 4

Showing results (11-20 of 36) with videos related to

Sort By:
Pageof 4
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 15, 2014
Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletionKristof Van Schil, Françoise Meire, Marcus Karlstetter, et al.
Plos Genetics|March 22, 2013
Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domainHannah Verdin, Barbara D'haene, Diane Beysen, et al.
Human Reproduction (Oxford, England)|September 2, 2024
Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesisHannes Syryn, Julie Van de Velde, Griet De Clercq, et al.
Journal of Clinical Medicine|February 11, 2023
The Role of <i>MCM9</i> in the Etiology of Sertoli Cell-Only Syndrome and Premature Ovarian InsufficiencyIulia Potorac, Marie Laterre, Olivier Malaise, et al.
European Journal of Endocrinology|August 3, 2024
Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variantCécile Brachet, Alexander Laemmle, Martine Cools, et al.
Frontiers in Medicine|August 21, 2023
Paediatric cataract surgery with 27G vitrectomy instrumentation: the Ghent University Hospital ExperienceHwei Wuen Chan, Filip Van den Broeck, Axelle Cools, et al.
Scientific Reports|December 4, 2015
Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscapeHannah Verdin, Ana Fernández-Miñán, Sara Benito-Sanz, et al.
European Journal of Human Genetics : EJHG|January 9, 2014
Structural and numerical changes of chromosome X in patients with esophageal atresiaErwin Brosens, Elisabeth M de Jong, Tahsin Stefan Barakat, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 15, 2014
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophyFrauke Coppieters, Kristof Van Schil, Miriam Bauwens, et al.
Human Mutation|August 29, 2015
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1Frauke Coppieters, Anne Laure Todeschini, Takuro Fujimaki, et al.
Pageof 4