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Moumita Chaki

Showing results (21-30 of 42) with videos related to

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Diagnostics (Basel, Switzerland)|October 29, 2025
Perceived Barriers to NGS-Based Molecular Profiling Among US Metastatic Breast Cancer PatientsNicholas Cadirov, Moumita Chaki, Olivia Foroughi, et al.
The Journal of Investigative Dermatology|September 24, 2010
Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patientsMoumita Chaki, Mainak Sengupta, Maitreyee Mondal, et al.
Pediatric Nephrology (Berlin, Germany)|January 25, 2011
Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletionJulia Hoefele, Ahmet Nayir, Moumita Chaki, et al.
Breast Cancer Research : BCR|July 2, 2025
Retrospective comparison between breast cancer tissue- and blood-based next-generation sequencing results in detection of PIK3CA, AKT1, and PTEN alterationsMoumita Chaki, Mona Benrashid, Subir Puri, et al.
Kidney International|August 26, 2011
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathiesMoumita Chaki, Julia Hoefele, Susan J Allen, et al.
Journal of Personalized Medicine|August 25, 2023
Barriers to g<i>BRCA</i> Testing in High-Risk HER2-Negative Early Breast CancerOlivia Foroughi, Shaheen Madraswala, Jennifer Hayes, et al.
Kidney International|May 17, 2016
Loss of Glis2/NPHP7 causes kidney epithelial cell senescence and suppresses cyst growth in the Kif3a mouse model of cystic kidney diseaseDongmei Lu, Alysha Rauhauser, Binghua Li, et al.
Human Genetics|April 6, 2013
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathyJan Halbritter, Jonathan D Porath, Katrina A Diaz, 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.
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 5

Showing results (21-30 of 42) with videos related to

Sort By:
Pageof 5
Diagnostics (Basel, Switzerland)|October 29, 2025
Perceived Barriers to NGS-Based Molecular Profiling Among US Metastatic Breast Cancer PatientsNicholas Cadirov, Moumita Chaki, Olivia Foroughi, et al.
The Journal of Investigative Dermatology|September 24, 2010
Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patientsMoumita Chaki, Mainak Sengupta, Maitreyee Mondal, et al.
Pediatric Nephrology (Berlin, Germany)|January 25, 2011
Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletionJulia Hoefele, Ahmet Nayir, Moumita Chaki, et al.
Breast Cancer Research : BCR|July 2, 2025
Retrospective comparison between breast cancer tissue- and blood-based next-generation sequencing results in detection of PIK3CA, AKT1, and PTEN alterationsMoumita Chaki, Mona Benrashid, Subir Puri, et al.
Kidney International|August 26, 2011
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathiesMoumita Chaki, Julia Hoefele, Susan J Allen, et al.
Journal of Personalized Medicine|August 25, 2023
Barriers to g<i>BRCA</i> Testing in High-Risk HER2-Negative Early Breast CancerOlivia Foroughi, Shaheen Madraswala, Jennifer Hayes, et al.
Kidney International|May 17, 2016
Loss of Glis2/NPHP7 causes kidney epithelial cell senescence and suppresses cyst growth in the Kif3a mouse model of cystic kidney diseaseDongmei Lu, Alysha Rauhauser, Binghua Li, et al.
Human Genetics|April 6, 2013
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathyJan Halbritter, Jonathan D Porath, Katrina A Diaz, 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.
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 5