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Helen M Stuart

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

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Kidney International|March 20, 2019
Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladderNeil A Roberts, Emma N Hilton, Filipa M Lopes, et al.
Science Advances|May 18, 2022
A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associationsRanjay Jayadev, Mychel R P T Morais, Jamie M Ellingford, et al.
Frontiers in Genetics|July 11, 2022
Expanding the <i>HPSE2</i> Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary BladderGlenda M Beaman, Filipa M Lopes, Aybike Hofmann, et al.
American Journal of Human Genetics|November 15, 2011
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like SyndromeStefanie Weber, Holger Thiele, Sevgi Mir, et al.
Journal of Medical Genetics|April 21, 2021
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disordersLeslie Patricia Molina-Ramírez, Claire Kyle, Jamie M Ellingford, et al.
American Journal of Human Genetics|January 15, 2013
LRIG2 mutations cause urofacial syndromeHelen M Stuart, Neil A Roberts, Berk Burgu, et al.
American Journal of Human Genetics|May 4, 2019
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract ObstructionCaroline M Kolvenbach, Gabriel C Dworschak, Sandra Frese, et al.
American Journal of Human Genetics|December 9, 2017
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental DisorderSara Cuvertino, Helen M Stuart, Kate E Chandler, et al.
American Journal of Human Genetics|August 4, 2015
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter DevelopmentAsaf Vivante, Marc-Jens Kleppa, Julian Schulz, et al.
Journal of the American Society of Nephrology : JASN|August 23, 2014
Urinary tract effects of HPSE2 mutationsHelen M Stuart, Neil A Roberts, Emma N Hilton, et al.
Pageof 2

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

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 20 results.
Kidney International|March 20, 2019
Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladderNeil A Roberts, Emma N Hilton, Filipa M Lopes, et al.
Science Advances|May 18, 2022
A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associationsRanjay Jayadev, Mychel R P T Morais, Jamie M Ellingford, et al.
Frontiers in Genetics|July 11, 2022
Expanding the <i>HPSE2</i> Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary BladderGlenda M Beaman, Filipa M Lopes, Aybike Hofmann, et al.
American Journal of Human Genetics|November 15, 2011
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like SyndromeStefanie Weber, Holger Thiele, Sevgi Mir, et al.
Journal of Medical Genetics|April 21, 2021
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disordersLeslie Patricia Molina-Ramírez, Claire Kyle, Jamie M Ellingford, et al.
American Journal of Human Genetics|January 15, 2013
LRIG2 mutations cause urofacial syndromeHelen M Stuart, Neil A Roberts, Berk Burgu, et al.
American Journal of Human Genetics|May 4, 2019
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract ObstructionCaroline M Kolvenbach, Gabriel C Dworschak, Sandra Frese, et al.
American Journal of Human Genetics|December 9, 2017
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental DisorderSara Cuvertino, Helen M Stuart, Kate E Chandler, et al.
American Journal of Human Genetics|August 4, 2015
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter DevelopmentAsaf Vivante, Marc-Jens Kleppa, Julian Schulz, et al.
Journal of the American Society of Nephrology : JASN|August 23, 2014
Urinary tract effects of HPSE2 mutationsHelen M Stuart, Neil A Roberts, Emma N Hilton, et al.
Pageof 2