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Edgar A Otto

Showing results (31-40 of 118) with videos related to

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Journal of the American Society of Nephrology : JASN|September 10, 2011
Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuriaBugsu Ovunc, Edgar A Otto, Virginia Vega-Warner, et al.
European Journal of Human Genetics : EJHG|June 13, 2018
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndromeFrancesco Brancati, Letizia Camerota, Emma Colao, et al.
BMC Bioinformatics|June 12, 2016
tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machineChristopher E Gillies, Edgar A Otto, Virginia Vega-Warner, et al.
Human Genetics|June 2, 2006
Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharingMatthias T F Wolf, Bettina E Mucha, Hans C Hennies, et al.
American Journal of Medical Genetics. Part A|February 14, 2009
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomaliesDaniel R Jensen, Donna M Martin, Stephen Gebarski, et al.
Clinical Journal of the American Society of Nephrology : CJASN|April 19, 2014
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndromeSvjetlana Lovric, Humphrey Fang, Virginia Vega-Warner, 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.
Journal of Medical Genetics|July 10, 2007
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndromeJuliana Helou, Edgar A Otto, Massimo Attanasio, et al.
Biorxiv : the Preprint Server for Biology|March 10, 2025
Parallel multiOMIC analysis reveals glutamine deprivation enhances directed differentiation of renal organoidsIman Sarami, Katherine E Hekman, Ashwani Kumar Gupta, et al.
Journal of Medical Genetics|November 29, 2012
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencingJan Halbritter, Katrina Diaz, Moumita Chaki, et al.
Pageof 12

Showing results (31-40 of 118) with videos related to

Sort By:
Pageof 12
Journal of the American Society of Nephrology : JASN|September 10, 2011
Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuriaBugsu Ovunc, Edgar A Otto, Virginia Vega-Warner, et al.
European Journal of Human Genetics : EJHG|June 13, 2018
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndromeFrancesco Brancati, Letizia Camerota, Emma Colao, et al.
BMC Bioinformatics|June 12, 2016
tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machineChristopher E Gillies, Edgar A Otto, Virginia Vega-Warner, et al.
Human Genetics|June 2, 2006
Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharingMatthias T F Wolf, Bettina E Mucha, Hans C Hennies, et al.
American Journal of Medical Genetics. Part A|February 14, 2009
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomaliesDaniel R Jensen, Donna M Martin, Stephen Gebarski, et al.
Clinical Journal of the American Society of Nephrology : CJASN|April 19, 2014
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndromeSvjetlana Lovric, Humphrey Fang, Virginia Vega-Warner, 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.
Journal of Medical Genetics|July 10, 2007
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndromeJuliana Helou, Edgar A Otto, Massimo Attanasio, et al.
Biorxiv : the Preprint Server for Biology|March 10, 2025
Parallel multiOMIC analysis reveals glutamine deprivation enhances directed differentiation of renal organoidsIman Sarami, Katherine E Hekman, Ashwani Kumar Gupta, et al.
Journal of Medical Genetics|November 29, 2012
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencingJan Halbritter, Katrina Diaz, Moumita Chaki, et al.
Pageof 12