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American Journal of Human Genetics
|
January 28, 2014
NR2F1 mutations cause optic atrophy with intellectual disability
Daniëlle G M Bosch, F Nienke Boonstra, Claudia Gonzaga-Jauregui, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 18, 2016
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations
Chun-An Chen, Daniëlle G M Bosch, Megan T Cho, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 5, 2017
CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations
Chun-An Chen, Daniëlle G M Bosch, Megan T Cho ScM, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 24, 2026
International Clinical Evidence-based Guideline for Kleefstra Syndrome
Arianne Bouman, Charlotte M W Gaasterland, Carla Sloof-Enthoven, et al.
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Search research articles
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Showing results (41-50 of 44) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 44 results.
American Journal of Human Genetics
|
January 28, 2014
NR2F1 mutations cause optic atrophy with intellectual disability
Daniëlle G M Bosch, F Nienke Boonstra, Claudia Gonzaga-Jauregui, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 18, 2016
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations
Chun-An Chen, Daniëlle G M Bosch, Megan T Cho, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 5, 2017
CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations
Chun-An Chen, Daniëlle G M Bosch, Megan T Cho ScM, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 24, 2026
International Clinical Evidence-based Guideline for Kleefstra Syndrome
Arianne Bouman, Charlotte M W Gaasterland, Carla Sloof-Enthoven, et al.
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of 5