Detalhe da pesquisa
1.
Short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome: A case report.
Am J Med Genet A
; 188(12): 3535-3539, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36069504
2.
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.
Genet Med
; 23(9): 1624-1635, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040189
3.
Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?
Am J Med Genet A
; 173(6): 1593-1600, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28440577
4.
Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair.
Am J Med Genet A
; 173(2): 565-567, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27868344
5.
Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance.
Eur J Med Genet
; 63(4): 103842, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31945512
6.
Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother.
Clin Case Rep
; 5(4): 431-434, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28396763
7.
Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia.
Eur J Med Genet
; 59(4): 227-31, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26855056
8.
Novel HOXA2 variant presenting with microtia and variable hearing impairment in four-generation pedigree.
Clin Dysmorphol
; 29(2): 104-106, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31567444
9.
Unbalanced translocation 9;16 in two children with dysmorphic features, and severe developmental delay: Evidence of cross-over within derivative chromosome 9 in patient #1.
Eur J Med Genet
; 54(2): 189-93, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21144914