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Beatrice Oneda

Showing results (31-40 of 34) with videos related to

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Journal of Medical Genetics|October 2, 2015
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patientsMarcella Zollino, Giuseppe Marangi, Emanuela Ponzi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 8, 2019
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephalyParanchai Boonsawat, Pascal Joset, Katharina Steindl, et al.
European Journal of Human Genetics : EJHG|December 16, 2018
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number studySorina M Papuc, Lucia Abela, Katharina Steindl, et al.
European Journal of Human Genetics : EJHG|March 5, 2025
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signatureClara Houdayer, Kathleen Rooney, Liselot van der Laan, et al.
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Showing results (31-40 of 34) with videos related to

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Pageof 4
You have reached the last page of results.This site can display upto 34 results.
Journal of Medical Genetics|October 2, 2015
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patientsMarcella Zollino, Giuseppe Marangi, Emanuela Ponzi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 8, 2019
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephalyParanchai Boonsawat, Pascal Joset, Katharina Steindl, et al.
European Journal of Human Genetics : EJHG|December 16, 2018
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number studySorina M Papuc, Lucia Abela, Katharina Steindl, et al.
European Journal of Human Genetics : EJHG|March 5, 2025
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signatureClara Houdayer, Kathleen Rooney, Liselot van der Laan, et al.
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