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Thomas C Markello

Showing results (11-20 of 49) with videos related to

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Journal of the Endocrine Society|December 22, 2017
Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal MaturationChristina Tatsi, Alexandra Gkourogianni, Klaus Mohnike, et al.
Molecular Genetics and Metabolism|March 23, 2011
Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosisKevin O'Brien, James Troendle, Bernadette R Gochuico, et al.
Molecular Genetics and Metabolism|February 6, 2016
The NIH Undiagnosed Diseases Program and Network: Applications to modern medicineWilliam A Gahl, John J Mulvihill, Camilo Toro, et al.
American Journal of Respiratory and Critical Care Medicine|September 5, 2009
Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1Farshid N Rouhani, Mark L Brantly, Thomas C Markello, et al.
Human Genetics|October 25, 2024
Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic featuresPrashant Sharma, Jason R McFadden, F Graeme Frost, et al.
Blood|November 3, 2011
Ribosomal protein gene deletions in Diamond-Blackfan anemiaJason E Farrar, Adrianna Vlachos, Eva Atsidaftos, et al.
Molecular Genetics and Metabolism|January 3, 2017
Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1BCarlos R Ferreira, Dong Chen, Shirley M Abraham, et al.
American Journal of Respiratory and Critical Care Medicine|October 28, 2014
Circulating fibrocytes as biomarker of prognosis in Hermansky-Pudlak syndromeAaron Trimble, Bernadette R Gochuico, Thomas C Markello, et al.
Journal of Medical Genetics|November 3, 2018
Expanding the phenotype of COPA syndrome: a kindred with typical and atypical featuresAngelo M Taveira-DaSilva, Thomas C Markello, David E Kleiner, et al.
Molecular Genetics and Metabolism|July 2, 2010
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2Lisa M Vincent, Fred Gilbert, Jennifer I DiPace, et al.
Pageof 5

Showing results (11-20 of 49) with videos related to

Sort By:
Pageof 5
Journal of the Endocrine Society|December 22, 2017
Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal MaturationChristina Tatsi, Alexandra Gkourogianni, Klaus Mohnike, et al.
Molecular Genetics and Metabolism|March 23, 2011
Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosisKevin O'Brien, James Troendle, Bernadette R Gochuico, et al.
Molecular Genetics and Metabolism|February 6, 2016
The NIH Undiagnosed Diseases Program and Network: Applications to modern medicineWilliam A Gahl, John J Mulvihill, Camilo Toro, et al.
American Journal of Respiratory and Critical Care Medicine|September 5, 2009
Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1Farshid N Rouhani, Mark L Brantly, Thomas C Markello, et al.
Human Genetics|October 25, 2024
Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic featuresPrashant Sharma, Jason R McFadden, F Graeme Frost, et al.
Blood|November 3, 2011
Ribosomal protein gene deletions in Diamond-Blackfan anemiaJason E Farrar, Adrianna Vlachos, Eva Atsidaftos, et al.
Molecular Genetics and Metabolism|January 3, 2017
Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1BCarlos R Ferreira, Dong Chen, Shirley M Abraham, et al.
American Journal of Respiratory and Critical Care Medicine|October 28, 2014
Circulating fibrocytes as biomarker of prognosis in Hermansky-Pudlak syndromeAaron Trimble, Bernadette R Gochuico, Thomas C Markello, et al.
Journal of Medical Genetics|November 3, 2018
Expanding the phenotype of COPA syndrome: a kindred with typical and atypical featuresAngelo M Taveira-DaSilva, Thomas C Markello, David E Kleiner, et al.
Molecular Genetics and Metabolism|July 2, 2010
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2Lisa M Vincent, Fred Gilbert, Jennifer I DiPace, et al.
Pageof 5