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Cindy Skinner

Showing results (31-40 of 81) with videos related to

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European Journal of Human Genetics : EJHG|September 26, 2003
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndromeA Lauren Cason, Yoshihiko Ikeguchi, Cindy Skinner, et al.
Frontiers in Psychiatry|January 30, 2024
<i>PTCHD1</i> gene mutation/deletion: the cognitive-behavioral phenotyping of four case reportsFederica Alice Maria Montanaro, Alessandra Mandarino, Viola Alesi, et al.
The Journal of Molecular Diagnostics : JMD|February 24, 2023
Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal CasesM Anwar Iqbal, Ulrich Broeckel, Brynn Levy, et al.
Frontiers in Psychiatry|February 28, 2024
Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reportsFederica Alice Maria Montanaro, Alessandra Mandarino, Viola Alesi, et al.
Disease Models & Mechanisms|April 21, 2023
PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformationBrittany T Truong, Lomeli C Shull, Ezra Lencer, et al.
Biology|May 26, 2018
A Rare De Novo <i>RAI1</i> Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome PresentationClemer Abad, Melissa M Cook, Lei Cao, et al.
Epigenetics & Chromatin|March 16, 2017
Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndromeLaila C Schenkel, Kristin D Kernohan, Arran McBride, et al.
Human Molecular Genetics|January 12, 2013
Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and pubertyDavid E Godler, Yoshimi Inaba, Elva Z Shi, et al.
Clinical Genetics|October 19, 2021
Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizuresLavanya Jain, Lindsay M Oberman, Laura Beamer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 18, 2021
Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiencySeok-Ho Yu, Tong Wang, Kali Wiggins, et al.
Pageof 9

Showing results (31-40 of 81) with videos related to

Sort By:
Pageof 9
European Journal of Human Genetics : EJHG|September 26, 2003
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndromeA Lauren Cason, Yoshihiko Ikeguchi, Cindy Skinner, et al.
Frontiers in Psychiatry|January 30, 2024
<i>PTCHD1</i> gene mutation/deletion: the cognitive-behavioral phenotyping of four case reportsFederica Alice Maria Montanaro, Alessandra Mandarino, Viola Alesi, et al.
The Journal of Molecular Diagnostics : JMD|February 24, 2023
Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal CasesM Anwar Iqbal, Ulrich Broeckel, Brynn Levy, et al.
Frontiers in Psychiatry|February 28, 2024
Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reportsFederica Alice Maria Montanaro, Alessandra Mandarino, Viola Alesi, et al.
Disease Models & Mechanisms|April 21, 2023
PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformationBrittany T Truong, Lomeli C Shull, Ezra Lencer, et al.
Biology|May 26, 2018
A Rare De Novo <i>RAI1</i> Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome PresentationClemer Abad, Melissa M Cook, Lei Cao, et al.
Epigenetics & Chromatin|March 16, 2017
Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndromeLaila C Schenkel, Kristin D Kernohan, Arran McBride, et al.
Human Molecular Genetics|January 12, 2013
Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and pubertyDavid E Godler, Yoshimi Inaba, Elva Z Shi, et al.
Clinical Genetics|October 19, 2021
Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizuresLavanya Jain, Lindsay M Oberman, Laura Beamer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 18, 2021
Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiencySeok-Ho Yu, Tong Wang, Kali Wiggins, et al.
Pageof 9