Results 41 to 50 of about 3,196 (199)
Defektmissbildungen an den unteren Extremitäten [PDF]
Zusammenfassung: Missbildungen mit Defekten an den unteren Extremitäten sind selten. Sie entstehen in der Regel als toxische Schädigung während der Schwangerschaft zwischen der 4. und der 12.Woche. Es gibt auch solche mit hereditären Ursachen.
Hefti, F.
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This scoping review identified 145 different interventions designed to support parent carer empowerment. These interventions have been catalogued and are presented in an interactive, online database. Abstract Aim To compile information about interventions that have been developed to support the empowerment of parent carers of children and young people ...
Jim Reeder +7 more
wiley +1 more source
Grande tache pigmentée pileuse révélant une forme familiale de la maladie de Von Recklinghausen
La neurofibromatose de type 1 (NF1) ou maladie de Von Recklinghausen appartient au groupe de maladies appelé phacomatose. C'est une affection autosomique dominante relativement rare.
Anass Es seddiki +4 more
doaj +1 more source
Shwannoma unilateral do acústico em criança sem associação com neurofibromatose
Schwannomas do acústico representam 8% dos tumores intracranianos primários do adulto, havendo apenas 20 casos relatados em crianças sem associação com neurofibromatose.
Gisele Alborghetti Nai +3 more
doaj +1 more source
Neurofibromatosis type 1 and pulmonary arterial hypertension: A case report
Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder that affects multiple organ systems and has a wide range of clinical manifestations.
Marina Raquel Santos +1 more
doaj +1 more source
Nodules de lisch dans la neurofibromatose type 1
La neurofibromatose 1 (NF1) ou maladie de Von Recklinghausen est une maladie qui se manifeste par des taches café au lait cutanées et des neurofi bromes. C'est une des maladies génétiques les plus fréquentes à transmission autosomique dominant.
Yassine Abaloun, Yousra Ajhoun
doaj +1 more source
Phaeochromocytoma Associated to Von Recklinghausen Neurofibromatosis Type I: a Rare Clinical Case [PDF]
Os feocromocitomas são neoplasias originárias das células cromafins da crista neural localizados, na sua grande maioria, na medula supra-renal, podendo também aparecer nos gânglios simpáticos (paragangliomas).
Jorge, V +4 more
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Neurofibroma Plexiforme Vesical em Portador de Neurofibromatose: Relato de caso
Introdução: A neurofibromatose do tipo 1 (NF1) e uma doença hereditária de caráter autossômico dominante, com reentrância completa e relacionada a mutações no gene NF1 (17q11.2).
Ana Carolina Bonini Domingos +3 more
doaj +1 more source
Problèmes d'apprentissage scolaire et neurofibromatose 1
Jacques Zeller, Pierre Wolkenstein
doaj +1 more source
Cognitive deficits in children with neurofibromatosis Type I: from recognition to treatment [PDF]
__Abstract__ Over the past few years, mouse models have significantly contributed to our understanding of the molecular mechanisms underlying cognitive dysfunction in genetic disorders.
Krab, L.C. (Lianne)
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