Detalhe da pesquisa
1.
Recontact: a survey of current practices and BRCA1/2 testing in Japan.
J Hum Genet
; 68(8): 551-557, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37072622
2.
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.
Hum Mutat
; 42(1): 50-65, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131168
3.
Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities.
J Hum Genet
; 63(4): 529-532, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29362492
4.
Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype.
Brain Dev
; 43(10): 1023-1028, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34481663
5.
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Nat Commun
; 10(1): 2506, 2019 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31175295
6.
A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum.
Hum Genome Var
; 5: 18005, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29531774