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1.
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Am J Hum Genet
; 111(6): 1206-1221, 2024 Jun 06.
Article
in English
| MEDLINE | ID: mdl-38772379
2.
High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses.
Prenat Diagn
; 42(6): 725-735, 2022 05.
Article
in English
| MEDLINE | ID: mdl-34918830
3.
A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies.
Genes (Basel)
; 15(3)2024 03 13.
Article
in English
| MEDLINE | ID: mdl-38540414
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