共 50 条
- [36] Description of a new TP53 gene germline mutation in a family with the Li-Fraumeni syndrome.: Genetic counselling to healthy mutation MEDICINA CLINICA, 2002, 119 (13): : 497 - 499
- [37] Erratum to: Absence of mutation in the NOD2/CARD15 gene among 483 Japanese patients with Crohn's disease Journal of Human Genetics, 2003, 48 : 397 - 397
- [39] Clinical utility gene card for: 15q13.3 microdeletion syndrome European Journal of Human Genetics, 2014, 22 : 1338 - 1338
- [40] Unusual clinical presentation and new mutation in a case of triple A syndrome ENDOCRINOLOGIA DIABETES Y NUTRICION, 2022, 69 (05): : 382 - 384