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Diana Rodriguez

Showing results (151-160 of 193) with videos related to

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European Journal of Medical Genetics|March 26, 2013
Detailed clinical, genetic and neuroimaging characterization of OFD VI syndromeVéronique Darmency-Stamboul, Lydie Burglen, Estelle Lopez, et al.
The European Respiratory Journal|September 18, 2025
De novo <b><i>SRRM2</i></b> variants in neuroendocrine cell hyperplasia of infancy and persistent tachypnea of infancyCamille Louvrier, Yohan Soreze, Julie Mesinele, et al.
Human Mutation|June 1, 2010
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotypeEric Pasmant, Audrey Sabbagh, Gill Spurlock, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|September 11, 2024
Antibody-mediated rejection diagnosed in early protocol biopsies in high immunological risk kidney transplant recipientsCarolt Arana, Evelyn Hermida, Jordi Rovira, et al.
European Journal of Human Genetics : EJHG|April 24, 2018
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experienceMélanie Rama, Claire Duflos, Isabelle Melki, et al.
The European Respiratory Journal|June 5, 2021
Pulse oximetry is an essential tool that saves lives: a call for standardisationCatia Cilloniz, Anita Simonds, Kjeld Hansen, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 14, 2012
Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathyFrançois Cartault, Patrick Munier, Edgar Benko, et al.
Neurology|December 28, 2012
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPANPenelope Hogarth, Allison Gregory, Michael C Kruer, et al.
Pediatric Neurology|November 16, 2016
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus InfectionNicole Ulrick, Amy Goldstein, Cas Simons, et al.
International Psychogeriatrics|August 13, 2010
Leg length, skull circumference, and the prevalence of dementia in low and middle income countries: a 10/66 population-based cross sectional surveyMartin Prince, Daisy Acosta, Alan D Dangour, et al.
Pageof 20

Showing results (151-160 of 193) with videos related to

Sort By:
Pageof 20
European Journal of Medical Genetics|March 26, 2013
Detailed clinical, genetic and neuroimaging characterization of OFD VI syndromeVéronique Darmency-Stamboul, Lydie Burglen, Estelle Lopez, et al.
The European Respiratory Journal|September 18, 2025
De novo <b><i>SRRM2</i></b> variants in neuroendocrine cell hyperplasia of infancy and persistent tachypnea of infancyCamille Louvrier, Yohan Soreze, Julie Mesinele, et al.
Human Mutation|June 1, 2010
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotypeEric Pasmant, Audrey Sabbagh, Gill Spurlock, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|September 11, 2024
Antibody-mediated rejection diagnosed in early protocol biopsies in high immunological risk kidney transplant recipientsCarolt Arana, Evelyn Hermida, Jordi Rovira, et al.
European Journal of Human Genetics : EJHG|April 24, 2018
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experienceMélanie Rama, Claire Duflos, Isabelle Melki, et al.
The European Respiratory Journal|June 5, 2021
Pulse oximetry is an essential tool that saves lives: a call for standardisationCatia Cilloniz, Anita Simonds, Kjeld Hansen, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 14, 2012
Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathyFrançois Cartault, Patrick Munier, Edgar Benko, et al.
Neurology|December 28, 2012
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPANPenelope Hogarth, Allison Gregory, Michael C Kruer, et al.
Pediatric Neurology|November 16, 2016
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus InfectionNicole Ulrick, Amy Goldstein, Cas Simons, et al.
International Psychogeriatrics|August 13, 2010
Leg length, skull circumference, and the prevalence of dementia in low and middle income countries: a 10/66 population-based cross sectional surveyMartin Prince, Daisy Acosta, Alan D Dangour, et al.
Pageof 20