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Christina Botti

Showing results (11-20 of 16) with videos related to

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American Journal of Medical Genetics. Part A|August 1, 2012
Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screeningSharon Anderson, Christina Botti, Bo Li, et al.
Genetics|October 16, 2014
A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humansSusan S Brooks, Alissa L Wall, Christelle Golzio, et al.
European Journal of Human Genetics : EJHG|June 1, 2010
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the DanishDeborah J Morris-Rosendahl, Reeval Segel, A Peter Born, et al.
American Journal of Human Genetics|August 23, 2016
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in FemalesJennifer M Bain, Megan T Cho, Aida Telegrafi, et al.
Orphanet Journal of Rare Diseases|March 19, 2021
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrumUlrike Hüffmeier, Cornelia Kraus, Miriam S Reuter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2023
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disordersFranziska Langhammer, Reza Maroofian, Rueda Badar, et al.
Pageof 2

Showing results (11-20 of 16) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 16 results.
American Journal of Medical Genetics. Part A|August 1, 2012
Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screeningSharon Anderson, Christina Botti, Bo Li, et al.
Genetics|October 16, 2014
A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humansSusan S Brooks, Alissa L Wall, Christelle Golzio, et al.
European Journal of Human Genetics : EJHG|June 1, 2010
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the DanishDeborah J Morris-Rosendahl, Reeval Segel, A Peter Born, et al.
American Journal of Human Genetics|August 23, 2016
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in FemalesJennifer M Bain, Megan T Cho, Aida Telegrafi, et al.
Orphanet Journal of Rare Diseases|March 19, 2021
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrumUlrike Hüffmeier, Cornelia Kraus, Miriam S Reuter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2023
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disordersFranziska Langhammer, Reza Maroofian, Rueda Badar, et al.
Pageof 2