Detalles de la búsqueda
1.
Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.
Genet Med
; 26(3): 101051, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38131308
2.
KIT-Associated Familial GIST Syndrome: Response to Tyrosine Kinase Inhibitors and Implications for Risk Management.
Oncologist
; 27(8): 615-620, 2022 08 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35791894
3.
SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.
Clin Endocrinol (Oxf)
; 96(4): 499-512, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34558728
4.
Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs).
J Med Genet
; 56(11): 718-726, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31018999
5.
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Genet Med
; 21(7): 1667-1671, 2019 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-30783266
6.
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Genet Med
; 21(6): 1308-1318, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30356099
7.
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.
Eur J Hum Genet
; 2024 May 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-38760421
8.
Cancer Precision-Prevention trial of Metformin in adults with Li Fraumeni syndrome (MILI) undergoing yearly MRI surveillance: a randomised controlled trial protocol.
Trials
; 25(1): 103, 2024 Feb 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-38308321
9.
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.
Eur J Hum Genet
; 27(2): 278-290, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30291340
10.
Myhre syndrome with facial paralysis and branch pulmonary stenosis.
Clin Dysmorphol
; 24(2): 84-5, 2015 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-25486016
Resultados
1 -
10
de 10
1
Próxima >
>>