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Luis Rohena

Showing results (1-10 of 36) with videos related to

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Case Reports in Genetics|May 27, 2022
Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental FindingJulie Fischer, Luis Rohena
Clinical Case Reports|April 22, 2016
Rare case of live born with confirmed mosaic trisomy 17 and review of the literatureAustin Baltensperger, Gayle Haischer, Luis Rohena
Current Opinion in Pediatrics|November 5, 2025
Genetic medicine in the US militaryMaj Grace Raines, Col Luis Rohena
American Journal of Medical Genetics. Part A|May 3, 2017
Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literatureDorian Perez, David T Hsieh, Luis Rohena
American Journal of Medical Genetics. Part A|April 11, 2017
Novel case of paternal paracentric inversion causing partial trisomy 13 and review of the literatureChad Douglas, Stephen A Smith, Luis Rohena
Clinical Case Reports|December 28, 2020
Case report: Novel phenotype in central 22q11.2 deletion syndromePatrick Dideum, Luis Rohena, Janet Berg, et al.
American Journal of Medical Genetics. Part A|May 20, 2011
Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndromeLuis Rohena, Devon Kuehn, Shannon Marchegiani, et al.
Clinical Case Reports|January 30, 2018
Tetraploid-diploid mosaicism in a patient with pigmentary anomalies of hair and skin: a new dermatologic featureJohn Paul Schacht, Elisha Farnworth, Jacob Hogue, et al.
Clinical Case Reports|November 25, 2020
A case series of a mother and two daughters with a <i>GLI2</i> gene deletion demonstrating variable expressivity and incomplete penetranceCameron Elward, Janet Berg, John M Oberlin, et al.
Clinical Case Reports|November 21, 2018
Youngest presenting patient with dystonia 24 and review of the literatureSarah Nelin, Richard Hussey, Brian M Faux, et al.
Pageof 4

Showing results (1-10 of 36) with videos related to

Sort By:
Pageof 4
Case Reports in Genetics|May 27, 2022
Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental FindingJulie Fischer, Luis Rohena
Clinical Case Reports|April 22, 2016
Rare case of live born with confirmed mosaic trisomy 17 and review of the literatureAustin Baltensperger, Gayle Haischer, Luis Rohena
Current Opinion in Pediatrics|November 5, 2025
Genetic medicine in the US militaryMaj Grace Raines, Col Luis Rohena
American Journal of Medical Genetics. Part A|May 3, 2017
Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literatureDorian Perez, David T Hsieh, Luis Rohena
American Journal of Medical Genetics. Part A|April 11, 2017
Novel case of paternal paracentric inversion causing partial trisomy 13 and review of the literatureChad Douglas, Stephen A Smith, Luis Rohena
Clinical Case Reports|December 28, 2020
Case report: Novel phenotype in central 22q11.2 deletion syndromePatrick Dideum, Luis Rohena, Janet Berg, et al.
American Journal of Medical Genetics. Part A|May 20, 2011
Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndromeLuis Rohena, Devon Kuehn, Shannon Marchegiani, et al.
Clinical Case Reports|January 30, 2018
Tetraploid-diploid mosaicism in a patient with pigmentary anomalies of hair and skin: a new dermatologic featureJohn Paul Schacht, Elisha Farnworth, Jacob Hogue, et al.
Clinical Case Reports|November 25, 2020
A case series of a mother and two daughters with a <i>GLI2</i> gene deletion demonstrating variable expressivity and incomplete penetranceCameron Elward, Janet Berg, John M Oberlin, et al.
Clinical Case Reports|November 21, 2018
Youngest presenting patient with dystonia 24 and review of the literatureSarah Nelin, Richard Hussey, Brian M Faux, et al.
Pageof 4