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Benjamin D Solomon

Showing results (171-180 of 179) with videos related to

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Kidney International|October 25, 2013
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL associationPawaree Saisawat, Stefan Kohl, Alina C Hilger, et al.
Journal of Medical Genetics|December 4, 2009
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individualsBenjamin D Solomon, Felicitas Lacbawan, Sandra Mercier, et al.
American Journal of Human Genetics|August 6, 2024
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorderMarie Morimoto, Eunjin Ryu, Benjamin J Steger, et al.
Journal of Medical Genetics|July 14, 2012
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic HedgehogBenjamin D Solomon, Kelly A Bear, Adrian Wyllie, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2019
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literatureErin Torti, Boris Keren, Elizabeth E Palmer, et al.
American Journal of Human Genetics|October 6, 2018
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan GlycosylationCarlos R Ferreira, Zhi-Jie Xia, Aurélie Clément, et al.
The New England Journal of Medicine|October 27, 2020
Somatic Mutations in <i>UBA1</i> and Severe Adult-Onset Autoinflammatory DiseaseDavid B Beck, Marcela A Ferrada, Keith A Sikora, et al.
Medrxiv : the Preprint Server for Health Sciences|July 28, 2023
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseasesHellen Lesmann, Alexander Hustinx, Shahida Moosa, et al.
Research Square|June 21, 2024
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseasesHellen Lesmann, Alexander Hustinx, Shahida Moosa, et al.
Pageof 18

Showing results (171-180 of 179) with videos related to

Sort By:
Pageof 18
You have reached the last page of results.This site can display upto 179 results.
Kidney International|October 25, 2013
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL associationPawaree Saisawat, Stefan Kohl, Alina C Hilger, et al.
Journal of Medical Genetics|December 4, 2009
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individualsBenjamin D Solomon, Felicitas Lacbawan, Sandra Mercier, et al.
American Journal of Human Genetics|August 6, 2024
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorderMarie Morimoto, Eunjin Ryu, Benjamin J Steger, et al.
Journal of Medical Genetics|July 14, 2012
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic HedgehogBenjamin D Solomon, Kelly A Bear, Adrian Wyllie, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2019
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literatureErin Torti, Boris Keren, Elizabeth E Palmer, et al.
American Journal of Human Genetics|October 6, 2018
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan GlycosylationCarlos R Ferreira, Zhi-Jie Xia, Aurélie Clément, et al.
The New England Journal of Medicine|October 27, 2020
Somatic Mutations in <i>UBA1</i> and Severe Adult-Onset Autoinflammatory DiseaseDavid B Beck, Marcela A Ferrada, Keith A Sikora, et al.
Medrxiv : the Preprint Server for Health Sciences|July 28, 2023
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseasesHellen Lesmann, Alexander Hustinx, Shahida Moosa, et al.
Research Square|June 21, 2024
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseasesHellen Lesmann, Alexander Hustinx, Shahida Moosa, et al.
Pageof 18