Detalhe da pesquisa
1.
An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).
Kidney Int
; 105(5): 1058-1076, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38364990
2.
3q29 duplications: A cohort of 46 patients and a literature review.
Am J Med Genet A
; : e63531, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421086
3.
Deliver Smart, Not More! Building Economically Sustainable Competitiveness on the Ground of High Agri-Food Trade Specialization in the EU.
Foods
; 12(2)2023 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36673324
4.
A novel synonymous variant in exon 1 of GNAS gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French family.
Bone Rep
; 14: 101073, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33997150