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M Beaman

Showing results (81-90 of 92) with videos related to

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Kidney International Reports|July 13, 2023
Neurogenic Defects Occur in <i>LRIG2</i>-Associated Urinary Bladder DiseaseCeline Grenier, Filipa M Lopes, Anna M Cueto-González, et al.
Clinical Genetics|August 24, 2019
A homozygous missense variant in CHRM3 associated with familial urinary bladder diseaseGlenda M Beaman, Gabriella Galatà, Keng W Teik, et al.
JAMA Pediatrics|March 21, 2022
Rapid Point-of-Care Genotyping to Avoid Aminoglycoside-Induced Ototoxicity in Neonatal Intensive CareJohn H McDermott, Ajit Mahaveer, Rachel A James, 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.
Elife|September 20, 2022
Diverse ancestry whole-genome sequencing association study identifies <i>TBX5</i> and <i>PTK7</i> as susceptibility genes for posterior urethral valvesMelanie M Y Chan, Omid Sadeghi-Alavijeh, Filipa M Lopes, et al.
The Journal of Clinical Investigation|September 13, 2019
Loss-of-function variants in myocardin cause congenital megabladder in humans and miceArjan C Houweling, Glenda M Beaman, Alex V Postma, et al.
The British Journal of Dermatology|August 20, 2022
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndromeYanshan Liu, Siddharth Banka, Yingzhi Huang, et al.
American Journal of Human Genetics|July 2, 2026
Bi-allelic missense variants in human GPN2 result in Perrault syndromeThomas B Smith, Rabia Faridi, Leigh A M Demain, 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|October 29, 2021
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentationsIrit Hochberg, Leigh A M Demain, Julie Richer, et al.
Pageof 10

Showing results (81-90 of 92) with videos related to

Sort By:
Pageof 10
Kidney International Reports|July 13, 2023
Neurogenic Defects Occur in <i>LRIG2</i>-Associated Urinary Bladder DiseaseCeline Grenier, Filipa M Lopes, Anna M Cueto-González, et al.
Clinical Genetics|August 24, 2019
A homozygous missense variant in CHRM3 associated with familial urinary bladder diseaseGlenda M Beaman, Gabriella Galatà, Keng W Teik, et al.
JAMA Pediatrics|March 21, 2022
Rapid Point-of-Care Genotyping to Avoid Aminoglycoside-Induced Ototoxicity in Neonatal Intensive CareJohn H McDermott, Ajit Mahaveer, Rachel A James, 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.
Elife|September 20, 2022
Diverse ancestry whole-genome sequencing association study identifies <i>TBX5</i> and <i>PTK7</i> as susceptibility genes for posterior urethral valvesMelanie M Y Chan, Omid Sadeghi-Alavijeh, Filipa M Lopes, et al.
The Journal of Clinical Investigation|September 13, 2019
Loss-of-function variants in myocardin cause congenital megabladder in humans and miceArjan C Houweling, Glenda M Beaman, Alex V Postma, et al.
The British Journal of Dermatology|August 20, 2022
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndromeYanshan Liu, Siddharth Banka, Yingzhi Huang, et al.
American Journal of Human Genetics|July 2, 2026
Bi-allelic missense variants in human GPN2 result in Perrault syndromeThomas B Smith, Rabia Faridi, Leigh A M Demain, 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|October 29, 2021
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentationsIrit Hochberg, Leigh A M Demain, Julie Richer, et al.
Pageof 10