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D Porath

Showing results (31-40 of 37) with videos related to

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Journal of Medical Genetics|August 16, 2015
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotypeIsabelle Perrault, Jan Halbritter, Jonathan D Porath, et al.
American Journal of Human Genetics|January 6, 2015
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signalingMarkus Schueler, Daniela A Braun, Gayathri Chandrasekar, et al.
Nature Communications|February 25, 2016
FAT1 mutations cause a glomerulotubular nephropathyHeon Yung Gee, Carolin E Sadowski, Pardeep K Aggarwal, et al.
American Journal of Human Genetics|September 24, 2013
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein armsMichael R Knowles, Lawrence E Ostrowski, Niki T Loges, et al.
American Journal of Human Genetics|October 8, 2013
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary DyskinesiaChristina Austin-Tse, Jan Halbritter, Maimoona A Zariwala, et al.
American Journal of Human Genetics|October 22, 2013
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humansJan Halbritter, Albane A Bizet, Miriam Schmidts, et al.
American Journal of Human Genetics|July 30, 2013
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6Maimoona A Zariwala, Heon Yung Gee, Małgorzata Kurkowiak, et al.
Pageof 4

Showing results (31-40 of 37) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 37 results.
Journal of Medical Genetics|August 16, 2015
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotypeIsabelle Perrault, Jan Halbritter, Jonathan D Porath, et al.
American Journal of Human Genetics|January 6, 2015
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signalingMarkus Schueler, Daniela A Braun, Gayathri Chandrasekar, et al.
Nature Communications|February 25, 2016
FAT1 mutations cause a glomerulotubular nephropathyHeon Yung Gee, Carolin E Sadowski, Pardeep K Aggarwal, et al.
American Journal of Human Genetics|September 24, 2013
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein armsMichael R Knowles, Lawrence E Ostrowski, Niki T Loges, et al.
American Journal of Human Genetics|October 8, 2013
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary DyskinesiaChristina Austin-Tse, Jan Halbritter, Maimoona A Zariwala, et al.
American Journal of Human Genetics|October 22, 2013
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humansJan Halbritter, Albane A Bizet, Miriam Schmidts, et al.
American Journal of Human Genetics|July 30, 2013
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6Maimoona A Zariwala, Heon Yung Gee, Małgorzata Kurkowiak, et al.
Pageof 4