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Wendy D Jones

Showing results (21-30 of 25) with videos related to

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American Journal of Human Genetics|December 25, 2018
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental DelayKeren Machol, Justine Rousseau, Sophie Ehresmann, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 15, 2023
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic DesignJussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, et al.
American Journal of Human Genetics|April 23, 2025
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylationZain Dardas, Laura Harrold, Daniel G Calame, et al.
European Journal of Human Genetics : EJHG|October 25, 2024
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlationsAngela Peron, Felice D'Arco, Kimberly A Aldinger, et al.
Genetics in Medicine Open|January 17, 2025
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disordersHarriet Copeland, Karen J Low, Sarah L Wynn, et al.
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Showing results (21-30 of 25) with videos related to

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Pageof 3
You have reached the last page of results.This site can display upto 25 results.
American Journal of Human Genetics|December 25, 2018
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental DelayKeren Machol, Justine Rousseau, Sophie Ehresmann, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 15, 2023
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic DesignJussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, et al.
American Journal of Human Genetics|April 23, 2025
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylationZain Dardas, Laura Harrold, Daniel G Calame, et al.
European Journal of Human Genetics : EJHG|October 25, 2024
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlationsAngela Peron, Felice D'Arco, Kimberly A Aldinger, et al.
Genetics in Medicine Open|January 17, 2025
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disordersHarriet Copeland, Karen J Low, Sarah L Wynn, et al.
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