Results 61 to 70 of about 1,414 (228)
AGENESIA DENTÁRIA: IMPORTÂNCIA DESTE CONCEITO PELO CIRURGIÃO-DENTISTA
UNINGÁ Review, 2014 O objetivo deste estudo foi realizar uma breve revisão da literatura sobre o tema agenesia dental. Foram utilizadas as bases MEDLINE, LILACS, EBSCO, SCIELO, através da busca simultânea eletrônica de dados, utilizando-se as seguintes palavras chaves ...
ROSANA FÁTIMA FERREIRA +1 more
doaj
Journal of Medical Radiation Sciences, EarlyView.Health consumer complaints to the New Zealand Health and Disability Commissioner involving sonographers are rare, totalling 15 in the last 31 years and averaging 1.5 cases per year over the last decade. A large proportion of complaints involve an undetected finding, obstetric examination and private setting.
Martin Necas +5 more
wiley +1 more source
Abordaje clínico de variantes fenotípicas en neurofibromatosis de tipo 1
Revista de la Asociación Colombiana de Dermatología y Cirugía Dermatológica, 2019 La neurofibromatosis de tipo 1 es una enfermedad genética de herencia autosómica dominante, de afectación multisistémica y gran variabilidad fenotípica, causada por una mutación del gen NF1 localizada en el cromosoma 17 q11.2 que afecta la codificación ...
Dora Lucía Vallejo +1 more
doaj
Agenesia de artéria carótida interna
Jornal Vascular Brasileiro, 2018 Resumo A agenesia de carótida interna é uma anomalia rara. Na maioria dos casos, é assintomática devido às anastomoses que podem estar presentes, mas pode estar associada a complicações, principalmente quando evidenciada a presença de outras alterações ...
Adriano Carvalho Guimarães +3 more
doaj +1 more source
Movement Disorders Clinical Practice, EarlyView.Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño +6 more
wiley +1 more source
Real‐Time Targeted Slice Reacquisition for Motion‐Corrupted Fetal Diffusion MRI
Magnetic Resonance in Medicine, EarlyView.ABSTRACT Purpose To develop and evaluate a real‐time framework for targeted slice‐level reacquisition in fetal diffusion MRI. Methods A DW‐SE‐EPI sequence was modified to support independent diffusion preparation per slice. A pathology‐robust nnU‐Net segmentation network, updated from a previously published baseline (V1) using pathological fetal cases ...
Jordina Aviles Verdera +7 more
wiley +1 more source
Odontología Sanmarquina, 2008 Se estudió las anomalías en número de las piezas dentarias en pacientes con fisura labio alveolo palatina (FLAP) utilizando radiografías panorámicas e historias clínicas de 129 niños (79 niños y 50 niñas) de 6 a 12 años, del Instituto Especializado de ...
Luis Alberto Mogollón Tello +1 more
doaj +1 more source
Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1
Muscle &Nerve, EarlyView.ABSTRACT Glutamine:fructose‐6‐phosphate transaminase 1 (GFPT1) catalyzes the first and rate‐limiting step of the hexosamine biosynthetic pathway (HBP) to generate UDP‐GlcNAc. GFPT1 exon 9 is specifically spliced in in striated muscles, which makes a long isoform of GFPT1 (GFPT1‐L).
Kinji Ohno +5 more
wiley +1 more source
Muscle &Nerve, EarlyView.ABSTRACT Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular ...
Rocio‐Nur Villar‐Quiles +5 more
wiley +1 more source