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1.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Am J Hum Genet;
109(4): 601-617, 2022 04 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35395208
2.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Genet Med;
26(2): 101023, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37947183
3.
Relationship satisfaction in adults with phenylketonuria is positively associated with following recommended treatment, having a partner involved in management, and maintaining good health.
J Community Genet;
14(6): 627-638, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37798460
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