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1.
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Genet Med
; 26(4): 101057, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38158856
2.
An investigation of genetic variability of DNA methyltransferases DNMT3A and 3B does not provide evidence for a major role in the pathogenesis of panic disorder and dimensional anxiety phenotypes.
J Neural Transm (Vienna)
; 127(11): 1527-1537, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32468273
3.
Rare and potentially fatal - Cytogenetically cryptic TNIP1::PDGFRB and PCM1::FGFR1 fusion leading to myeloid/lymphoid neoplasms with eosinophilia in children.
Cancer Genet
; 272-273: 29-34, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36657267
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