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Doriana Misceo

Showing results (1-10 of 60) with videos related to

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Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke|September 13, 2008
[Structural variation in the human genome contributes to variation of traits]Tuva Barøy, Doriana Misceo, Eirik Frengen
European Journal of Medical Genetics|May 14, 2013
A balanced de novo inv(7)(p14.3q22.3) disrupting PDE1C and ATXN7L1 in a 14-year old developmentally delayed boyThilini H Gamage, Doriana Misceo, Madeleine Fannemel, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delayEllen Ø Carlsen, Eirik Frengen, Madeleine Fannemel, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology|August 9, 2003
Human chromosome 16 conservation in primatesDoriana Misceo, Mario Ventura, Verena Eder, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology|October 9, 2008
Refinement of macaque synteny arrangement with respect to the official rheMac2 macaque sequence assemblyRoberta Roberto, Doriana Misceo, Pietro D'Addabbo, et al.
American Journal of Medical Genetics. Part A|January 24, 2009
A partial trisomy 1q patient with a deletion 1q22 and an insertion 1(q42q44) into 1q22Doriana Misceo, Mariano Rocchi, Carl Birger van der Hagen, et al.
Pediatric Neurology|March 23, 2019
TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical MysteryDulika Sumathipala, Petter Strømme, Christian Gilissen, et al.
American Journal of Medical Genetics. Part A|March 7, 2013
Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expressionJohan Robert Helle, Tuva Barøy, Doriana Misceo, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|November 9, 2025
De novo CSDE1 missense variant T595N regulates miRNA expression in a patient with a complex neurodevelopmental conditionClaire Hynes, Evan Williams, Doriana Misceo, et al.
European Journal of Medical Genetics|September 19, 2012
A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic featuresKarijn Floor, Tuva Barøy, Doriana Misceo, et al.
Pageof 6

Showing results (1-10 of 60) with videos related to

Sort By:
Pageof 6
Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke|September 13, 2008
[Structural variation in the human genome contributes to variation of traits]Tuva Barøy, Doriana Misceo, Eirik Frengen
European Journal of Medical Genetics|May 14, 2013
A balanced de novo inv(7)(p14.3q22.3) disrupting PDE1C and ATXN7L1 in a 14-year old developmentally delayed boyThilini H Gamage, Doriana Misceo, Madeleine Fannemel, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delayEllen Ø Carlsen, Eirik Frengen, Madeleine Fannemel, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology|August 9, 2003
Human chromosome 16 conservation in primatesDoriana Misceo, Mario Ventura, Verena Eder, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology|October 9, 2008
Refinement of macaque synteny arrangement with respect to the official rheMac2 macaque sequence assemblyRoberta Roberto, Doriana Misceo, Pietro D'Addabbo, et al.
American Journal of Medical Genetics. Part A|January 24, 2009
A partial trisomy 1q patient with a deletion 1q22 and an insertion 1(q42q44) into 1q22Doriana Misceo, Mariano Rocchi, Carl Birger van der Hagen, et al.
Pediatric Neurology|March 23, 2019
TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical MysteryDulika Sumathipala, Petter Strømme, Christian Gilissen, et al.
American Journal of Medical Genetics. Part A|March 7, 2013
Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expressionJohan Robert Helle, Tuva Barøy, Doriana Misceo, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|November 9, 2025
De novo CSDE1 missense variant T595N regulates miRNA expression in a patient with a complex neurodevelopmental conditionClaire Hynes, Evan Williams, Doriana Misceo, et al.
European Journal of Medical Genetics|September 19, 2012
A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic featuresKarijn Floor, Tuva Barøy, Doriana Misceo, et al.
Pageof 6