Our team wants to do the best we can for everyone we see.
Where I see patients (4)
Selected research
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Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.
Human molecular genetics
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Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies.
American journal of medical genetics. Part A
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Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma.
American journal of medical genetics. Part A
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