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1.
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
J Med Genet
; 2024 Jun 07.
Article
in English
| MEDLINE | ID: mdl-38849204
2.
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
J Med Genet
; 58(6): 400-413, 2021 06.
Article
in English
| MEDLINE | ID: mdl-32732226
3.
Transmission of germline TP53 mutations from male carriers to female partners.
J Med Genet
; 52(3): 145-6, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25612911
4.
Gestational choriocarcinoma associated with a germline TP53 mutation.
Fam Cancer
; 17(1): 113-117, 2018 01.
Article
in English
| MEDLINE | ID: mdl-28477316
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