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Showing results (181-190 of 194) with videos related to

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Human Mutation|February 19, 2013
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney DiseaseMiriam Schmidts, Valeska Frank, Tobias Eisenberger, et al.
Pediatric Nephrology (Berlin, Germany)|July 6, 2018
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathyMarijn F Stokman, Bert van der Zwaag, Nicole C A J van de Kar, et al.
American Journal of Human Genetics|November 5, 2013
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophyMiriam Schmidts, Julia Vodopiutz, Sonia Christou-Savina, et al.
Nature Genetics|April 4, 2006
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locusCorinne Stoetzel, Virginie Laurier, Erica E Davis, et al.
Nature Genetics|May 12, 2009
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesHemant Khanna, Erica E Davis, Carlos A Murga-Zamalloa, et al.
Nature Genetics|May 10, 2011
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromesAudrey Putoux, Sophie Thomas, Karlien L M Coene, et al.
Journal of Medical Genetics|March 5, 2013
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvementMiriam Schmidts, Heleen H Arts, Ernie M H F Bongers, et al.
Science (New York, N.Y.)|May 25, 2019
Germline selection shapes human mitochondrial DNA diversityWei Wei, Salih Tuna, Michael J Keogh, et al.
Nature Genetics|January 25, 2011
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrumErica E Davis, Qi Zhang, Qin Liu, 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.
Pageof 20

Showing results (181-190 of 194) with videos related to

Sort By:
Pageof 20
Human Mutation|February 19, 2013
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney DiseaseMiriam Schmidts, Valeska Frank, Tobias Eisenberger, et al.
Pediatric Nephrology (Berlin, Germany)|July 6, 2018
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathyMarijn F Stokman, Bert van der Zwaag, Nicole C A J van de Kar, et al.
American Journal of Human Genetics|November 5, 2013
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophyMiriam Schmidts, Julia Vodopiutz, Sonia Christou-Savina, et al.
Nature Genetics|April 4, 2006
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locusCorinne Stoetzel, Virginie Laurier, Erica E Davis, et al.
Nature Genetics|May 12, 2009
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesHemant Khanna, Erica E Davis, Carlos A Murga-Zamalloa, et al.
Nature Genetics|May 10, 2011
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromesAudrey Putoux, Sophie Thomas, Karlien L M Coene, et al.
Journal of Medical Genetics|March 5, 2013
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvementMiriam Schmidts, Heleen H Arts, Ernie M H F Bongers, et al.
Science (New York, N.Y.)|May 25, 2019
Germline selection shapes human mitochondrial DNA diversityWei Wei, Salih Tuna, Michael J Keogh, et al.
Nature Genetics|January 25, 2011
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrumErica E Davis, Qi Zhang, Qin Liu, 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.
Pageof 20