Detalhe da pesquisa
1.
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease.
Eur J Med Genet;
64(10): 104310, 2021 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34400370
2.
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
Sci Rep;
11(1): 15459, 2021 07 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34326454
3.
Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients.
Neurobiol Aging;
56: 213.e1-213.e5, 2017 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28551275