Detalhe da pesquisa
1.
Germline ERBB3 mutation in familial non-small-cell lung carcinoma: expanding ErbB's role in oncogenesis.
Hum Mol Genet
; 30(24): 2393-2401, 2021 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34274969
2.
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.
Hum Mol Genet
; 24(5): 1234-42, 2015 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25343988
3.
Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.
Am J Med Genet A
; 173(6): 1698-1704, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28422394
4.
Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.
Clin Endocrinol (Oxf)
; 80(1): 25-33, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24102379
5.
HLA Alleles Associated With Risk of Ankylosing Spondylitis and Rheumatoid Arthritis Influence the Gut Microbiome.
Arthritis Rheumatol
; 71(10): 1642-1650, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31038287
6.
Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.
Bonekey Rep
; 2: 456, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24501682