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1.
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.
Genet Med
; 19(1): 53-61, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27195815
2.
Consensus recommendations on altered sensory functioning in Phelan-McDermid syndrome.
Eur J Med Genet
; 66(5): 104726, 2023 May.
Article
in English
| MEDLINE | ID: mdl-36796507
3.
Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey.
Eur J Med Genet
; 66(7): 104771, 2023 Jul.
Article
in English
| MEDLINE | ID: mdl-37120079
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