Detalhe da pesquisa
1.
Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial.
Genet Med
; 22(1): 44-52, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31281181
2.
Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome.
Am J Med Genet A
; 182(8): 1865-1872, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32618096
3.
Homozygous deletion of exons 2-7 within TGFB3 gene in a child with severe Loeys-Dietz syndrome and Marfan-like features.
Am J Med Genet A
; 182(5): 1230-1235, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32022420
4.
The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency.
J Pediatr Genet
; 8(3): 172-178, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31406627
5.
Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review.
J Pediatr Genet
; 8(4): 252-256, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31687267
6.
SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family.
Ophthalmic Genet
; 42(1): 88-91, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33108933
7.
SOX11-related syndrome: report on a new case and review.
Clin Dysmorphol
; 30(1): 44-49, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33086258