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Erica E Davis

Showing results (31-40 of 125) with videos related to

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Human Mutation|August 27, 2025
Genetic Investigation and Transcriptome Profiling in a Nuclear Family With Peutz-Jeghers SyndromeTahir N Khan, Chunyu Liu, Kai Lee Yap, et al.
Scientific Reports|July 19, 2018
Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki SyndromeI-Chun Tsai, Kelly McKnight, Spencer U McKinstry, et al.
Journal of the American Society of Nephrology : JASN|July 14, 2018
The Human FSGS-Causing <i>ANLN</i> R431C Mutation Induces Dysregulated PI3K/AKT/mTOR/Rac1 Signaling in PodocytesGentzon Hall, Brandon M Lane, Kamal Khan, et al.
Human Genetics|November 6, 2010
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individualsSabine Janssen, Gokul Ramaswami, Erica E Davis, et al.
American Journal of Human Genetics|March 21, 2017
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal SyndromeAsaf Ta-Shma, Tahir N Khan, Asaf Vivante, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delayAyşegül Ozantürk, Erica E Davis, Aniko Sabo, et al.
Circulation. Cardiovascular Genetics|May 31, 2015
Loss of Function Mutations in NNT Are Associated With Left Ventricular NoncompactionMatthew N Bainbridge, Erica E Davis, Wen-Yee Choi, et al.
The Journal of Clinical Endocrinology and Metabolism|September 18, 2024
Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related DisordersBang Sun, Maria I Stamou, Sara L Stockman, et al.
Molecular Genetics and Genomics : MGG|September 4, 2025
Exome sequencing in a Pakistani male infertility cohort: perspective on molecular diagnosis, genetic heterogeneity, and diagnostic yieldDapeng Zhou, Ambrin Fatima, Afrasiab Ahmed, et al.
Human Mutation|November 10, 2019
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone ageShuji Mizumoto, Andreas R Janecke, Azita Sadeghpour, et al.
Pageof 13

Showing results (31-40 of 125) with videos related to

Sort By:
Pageof 13
Human Mutation|August 27, 2025
Genetic Investigation and Transcriptome Profiling in a Nuclear Family With Peutz-Jeghers SyndromeTahir N Khan, Chunyu Liu, Kai Lee Yap, et al.
Scientific Reports|July 19, 2018
Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki SyndromeI-Chun Tsai, Kelly McKnight, Spencer U McKinstry, et al.
Journal of the American Society of Nephrology : JASN|July 14, 2018
The Human FSGS-Causing <i>ANLN</i> R431C Mutation Induces Dysregulated PI3K/AKT/mTOR/Rac1 Signaling in PodocytesGentzon Hall, Brandon M Lane, Kamal Khan, et al.
Human Genetics|November 6, 2010
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individualsSabine Janssen, Gokul Ramaswami, Erica E Davis, et al.
American Journal of Human Genetics|March 21, 2017
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal SyndromeAsaf Ta-Shma, Tahir N Khan, Asaf Vivante, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delayAyşegül Ozantürk, Erica E Davis, Aniko Sabo, et al.
Circulation. Cardiovascular Genetics|May 31, 2015
Loss of Function Mutations in NNT Are Associated With Left Ventricular NoncompactionMatthew N Bainbridge, Erica E Davis, Wen-Yee Choi, et al.
The Journal of Clinical Endocrinology and Metabolism|September 18, 2024
Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related DisordersBang Sun, Maria I Stamou, Sara L Stockman, et al.
Molecular Genetics and Genomics : MGG|September 4, 2025
Exome sequencing in a Pakistani male infertility cohort: perspective on molecular diagnosis, genetic heterogeneity, and diagnostic yieldDapeng Zhou, Ambrin Fatima, Afrasiab Ahmed, et al.
Human Mutation|November 10, 2019
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone ageShuji Mizumoto, Andreas R Janecke, Azita Sadeghpour, et al.
Pageof 13