Juan M Pascual
2PUBLICATIONS
15CO-AUTHORS
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Publications (2)
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|Apr 14, 2021
Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.Richard Coulie, Dmitriy M Niyazov, Michael J Gambello
|Mar 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
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Frequent Collaborators
1 joint publications
Richard Coulie
1 joint publications
Michael J Gambello
1 joint publications
Elodie Fastré
1 joint publications
Pascal Brouillard
1 joint publications
Miikka Vikkula
1 joint publications
Chun-An Chen
1 joint publications
Marwan Shinawi
1 joint publications
John Mann
1 joint publications
Laurence Walsh
1 joint publications
Kristin G Monaghan
