Detalhe da pesquisa
1.
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
N Engl J Med
; 385(20): 1868-1880, 2021 11 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34758253
2.
Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort.
Clin Endocrinol (Oxf)
; 93(4): 409-418, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32430905
3.
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel GNRH1 variant in two siblings.
Endocrinol Diabetes Metab Case Rep
; 20202020 Mar 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32134721
4.
Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia.
Eur J Hum Genet
; 27(3): 369-377, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30568244