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Showing results (691-700 of 717) with videos related to

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Ophthalmology and Therapy|September 28, 2024
Utilising Narrative Medicine to Identify Key Factors Affecting Quality of Life in Dry Eye Disease: An Italian Multicentre StudyPasquale Aragona, Stefano Barabino, Ertugrul Akbas, et al.
American Journal of Human Genetics|July 2, 2019
Paralog Studies Augment Gene Discovery: DDX and DHX GenesIngrid Paine, Jennifer E Posey, Christopher M Grochowski, et al.
American Journal of Medical Genetics. Part A|September 28, 2020
Rubinstein-Taybi syndrome in diverse populationsCedrik Tekendo-Ngongang, Babajide Owosela, Nicole Fleischer, et al.
Genome Biology|February 9, 2020
Eleven grand challenges in single-cell data scienceDavid Lähnemann, Johannes Köster, Ewa Szczurek, et al.
American Journal of Human Genetics|July 30, 2019
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset HypotoniaHanneke A Haijes, Maria J E Koster, Holger Rehmann, et al.
Brain : a Journal of Neurology|February 21, 2024
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized studyNatalia Juliá-Palacios, Mireia Olivella, Mariya Sigatullina Bondarenko, et al.
Science Advances|August 17, 2022
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disordersXiangbin Jia, Shujie Zhang, Senwei Tan, et al.
Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 EpisignatureChristy W LaFlamme, Cassandra Rastin, Soham Sengupta, et al.
Hypertension (Dallas, Tex. : 1979)|December 21, 2011
Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthaseErika Salvi, Zoltán Kutalik, Nicola Glorioso, et al.
American Journal of Human Genetics|September 10, 2019
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital ArthrogryposisPamela Magini, Daphne J Smits, Laura Vandervore, et al.
Pageof 72

Showing results (691-700 of 717) with videos related to

Sort By:
Pageof 72
Ophthalmology and Therapy|September 28, 2024
Utilising Narrative Medicine to Identify Key Factors Affecting Quality of Life in Dry Eye Disease: An Italian Multicentre StudyPasquale Aragona, Stefano Barabino, Ertugrul Akbas, et al.
American Journal of Human Genetics|July 2, 2019
Paralog Studies Augment Gene Discovery: DDX and DHX GenesIngrid Paine, Jennifer E Posey, Christopher M Grochowski, et al.
American Journal of Medical Genetics. Part A|September 28, 2020
Rubinstein-Taybi syndrome in diverse populationsCedrik Tekendo-Ngongang, Babajide Owosela, Nicole Fleischer, et al.
Genome Biology|February 9, 2020
Eleven grand challenges in single-cell data scienceDavid Lähnemann, Johannes Köster, Ewa Szczurek, et al.
American Journal of Human Genetics|July 30, 2019
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset HypotoniaHanneke A Haijes, Maria J E Koster, Holger Rehmann, et al.
Brain : a Journal of Neurology|February 21, 2024
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized studyNatalia Juliá-Palacios, Mireia Olivella, Mariya Sigatullina Bondarenko, et al.
Science Advances|August 17, 2022
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disordersXiangbin Jia, Shujie Zhang, Senwei Tan, et al.
Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 EpisignatureChristy W LaFlamme, Cassandra Rastin, Soham Sengupta, et al.
Hypertension (Dallas, Tex. : 1979)|December 21, 2011
Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthaseErika Salvi, Zoltán Kutalik, Nicola Glorioso, et al.
American Journal of Human Genetics|September 10, 2019
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital ArthrogryposisPamela Magini, Daphne J Smits, Laura Vandervore, et al.
Pageof 72