Detalhe da pesquisa
1.
Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia.
Clin Genet
; 96(5): 429-438, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31347140
2.
Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.
J Hum Genet
; 61(7): 577-83, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27030147
3.
Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.
J Hum Genet
; 61(5): 457-61, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26763883
4.
Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease.
Orphanet J Rare Dis
; 15(1): 36, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32007091
5.
Correction to: Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation.
J Appl Genet
; 59(4): 525, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30145696
6.
Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation.
J Appl Genet
; 59(3): 281-289, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29845577
7.
Phenotypic description of two adult brothers presenting with mild form of Smith-Lemli-Opitz syndrome.
Clin Dysmorphol
; 28(3): 154-156, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30925529