Detalhe da pesquisa
1.
Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?
J Med Genet
; 59(10): 1017-1023, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35121649
2.
Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component.
J Med Genet
; 59(7): 678-686, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34348961
3.
Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation.
Clin Genet
; 102(4): 339-344, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35808913
4.
Hybrid approach of retractor-based and conventional laparoscopy enabling minimally invasive hysterectomy in a morbidly obese patient: case report and review of the literature.
Minim Invasive Ther Allied Technol
; 23(3): 184-7, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24329014
5.
Opipramol improves subjective quality of sleep the night prior to surgery: confirmatory testing of a double-blind, randomized clinical trial.
Neuropsychobiology
; 64(1): 24-31, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21577010
6.
Clinical characteristics, imaging findings, and genetic results of a patient with CEP290-related cone-rod dystrophy.
Ophthalmic Genet
; 42(4): 474-479, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33886416
7.
Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy.
Eur J Heart Fail
; 23(8): 1276-1286, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34050592
8.
Early Genetic Diagnosis of Neurofibromatosis Type 2 From Skin Plaque Plexiform Schwannomas in Childhood.
JAMA Dermatol
; 154(3): 341-346, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29322178
9.
Epidural anaesthesia for labour: does it influence the mode of delivery?
Arch Gynecol Obstet
; 275(4): 269-74, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17021773