Last Updated: 09/26/2026
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Found 8 publications
Personal journeys to and in human genetics and dysmorphology.
Journal: American journal of medical genetics. Part A
Published: November 05, 2023
Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome.
Journal: Journal of assisted reproduction and genetics
Published: April 30, 2018
Detection of a case of Angelman syndrome caused by an imprinting error in 949 pregnancies analyzed for AS following IVF.
Journal: Journal of assisted reproduction and genetics
Published: July 11, 2017
Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism.
Journal: Frontiers in molecular neuroscience
Published: October 16, 2015
Confirmation of 6q21-6q22.1 deletion in acro-cardio-facial syndrome and further delineation of this contiguous gene deletion syndrome.
Journal: American journal of medical genetics. Part A
Published: October 29, 2013
Showing 1-8 of 8
Last Updated: 09/26/2026