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Luis O Rohena

Showing results (1-10 of 6) with videos related to

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Clinical Case Reports|June 8, 2017
Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresiaMegan L Donahue, Luis O Rohena
Neurology. Clinical Practice|February 15, 2018
Tuberous sclerosis complex: Five new thingsDavid T Hsieh, Susan L Whiteway, Luis O Rohena, et al.
American Journal of Medical Genetics. Part A|May 14, 2016
Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo α-tropomyosin gene mutationAngela M Kelle, S Jared Bentley, Luis O Rohena, et al.
Pediatric Dermatology|December 18, 2014
Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakinNina K Antonov, Mina Y Kingsbery, Luis O Rohena, et al.
Clinical Case Reports|October 22, 2020
Lisch nodules and iris mammillations in two siblings with familial legius syndromeKaitlyn D Bixel, Miguel J Cano, Damon M Johnson, et al.
Human Mutation|March 21, 2020
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathyGemma L Carvill, Katherine L Helbig, Candace T Myers, et al.
Pageof 1

Showing results (1-10 of 6) with videos related to

Sort By:
Pageof 1
Clinical Case Reports|June 8, 2017
Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresiaMegan L Donahue, Luis O Rohena
Neurology. Clinical Practice|February 15, 2018
Tuberous sclerosis complex: Five new thingsDavid T Hsieh, Susan L Whiteway, Luis O Rohena, et al.
American Journal of Medical Genetics. Part A|May 14, 2016
Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo α-tropomyosin gene mutationAngela M Kelle, S Jared Bentley, Luis O Rohena, et al.
Pediatric Dermatology|December 18, 2014
Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakinNina K Antonov, Mina Y Kingsbery, Luis O Rohena, et al.
Clinical Case Reports|October 22, 2020
Lisch nodules and iris mammillations in two siblings with familial legius syndromeKaitlyn D Bixel, Miguel J Cano, Damon M Johnson, et al.
Human Mutation|March 21, 2020
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathyGemma L Carvill, Katherine L Helbig, Candace T Myers, et al.
Pageof 1