Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

D Porath

Showing results (21-30 of 37) with videos related to

Pageof 4
Sort By:
Plos One|May 26, 2016
SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog SignalingRannar Airik, Markus Schueler, Merlin Airik, 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.
Journal of Medical Genetics|December 18, 2015
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathiesMarkus Schueler, Jan Halbritter, Ian G Phelps, et al.
Pain Management|November 24, 2024
Ultrasound-guided regional anesthesia (UGRA) in the emergency department: a scoping reviewSyed Mohammad J Mahmood, Nikhil B Bhana, Clarence Kong, et al.
Journal of the American Society of Nephrology : JASN|October 10, 2014
Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosisJan Halbritter, Michelle Baum, Ann Marie Hynes, et al.
Human Mutation|August 22, 2015
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL AssociationAlina C Hilger, Jan Halbritter, Tracie Pennimpede, et al.
The Journal of Cell Biology|April 15, 2015
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zoneElle C Roberson, William E Dowdle, Aysegul Ozanturk, et al.
American Journal of Human Genetics|June 3, 2014
Mutations of CEP83 cause infantile nephronophthisis and intellectual disabilityMarion Failler, Heon Yung Gee, Pauline Krug, et al.
Plos Genetics|July 30, 2016
Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human DiseaseWesley R Lewis, Erik B Malarkey, Douglas Tritschler, et al.
Kidney International|October 22, 2015
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicityDaniela A Braun, Markus Schueler, Jan Halbritter, et al.
Pageof 4

Showing results (21-30 of 37) with videos related to

Sort By:
Pageof 4
Plos One|May 26, 2016
SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog SignalingRannar Airik, Markus Schueler, Merlin Airik, 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.
Journal of Medical Genetics|December 18, 2015
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathiesMarkus Schueler, Jan Halbritter, Ian G Phelps, et al.
Pain Management|November 24, 2024
Ultrasound-guided regional anesthesia (UGRA) in the emergency department: a scoping reviewSyed Mohammad J Mahmood, Nikhil B Bhana, Clarence Kong, et al.
Journal of the American Society of Nephrology : JASN|October 10, 2014
Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosisJan Halbritter, Michelle Baum, Ann Marie Hynes, et al.
Human Mutation|August 22, 2015
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL AssociationAlina C Hilger, Jan Halbritter, Tracie Pennimpede, et al.
The Journal of Cell Biology|April 15, 2015
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zoneElle C Roberson, William E Dowdle, Aysegul Ozanturk, et al.
American Journal of Human Genetics|June 3, 2014
Mutations of CEP83 cause infantile nephronophthisis and intellectual disabilityMarion Failler, Heon Yung Gee, Pauline Krug, et al.
Plos Genetics|July 30, 2016
Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human DiseaseWesley R Lewis, Erik B Malarkey, Douglas Tritschler, et al.
Kidney International|October 22, 2015
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicityDaniela A Braun, Markus Schueler, Jan Halbritter, et al.
Pageof 4