Results 111 to 120 of about 3,743 (226)

Wachstumsstörungen als Leitsymptom [PDF]

, 2018
Zusammenfassung: Kleinwuchs als Leitsymptom stellt eine häufige Fragestellung sowohl in der humangenetischen als auch in der pädiatrischen Sprechstunde dar. Definiert ist Kleinwuchs als eine Körperhöhe unter der 3.Perzentile der Norm bzw.
Rauch, A., Thiel, C.
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MULTIPLE NEUROENDOCRINE NEOPLASIA IN A PATIENT WITH TYPE I NEUROFIBROMATOSIS (NF1): REPORT OF A NEW MUTATION (NF1, EXONS 2-30 DELETION) AND LITERATURE REVIEW. [PDF]

Arq Bras Cir Dig, 2023
Kanno DT, Mattos RLM, Campos FG, Siqueira RM, Carvalho RB, Real Martinez CA.   +5 more
europepmc   +1 more source

[An unusual cause of tarsal tunnel syndrome in a 15-year-old girl: about a case]. [PDF]

Pan Afr Med J, 2022
Abdelkrim EH, Douma H, Barchah O, Elkasseh M, Boumaiz A, Belkyal S, Haoury HE, Madhar M, Chafik R, Najeb Y.   +9 more
europepmc   +1 more source

[Long-Term Pulmonary Function after Combined Anteroposterior Spinal Fusion for Scoliosis in Neurofibromatosis Type 1 and Marfan Syndrome at a Mean Follow-Up of 13 Years]. [PDF]

Rev Bras Ortop (Sao Paulo)
Oliveira JAA, Visconti RDR, Azevedo GBL, Barros AGC, Carelli LE, Silva JRLE.   +5 more
europepmc   +2 more sources

Characteristics of patients with neurofibromatosis and patient and caregiver perspectives on the impact of the disease and its clinical management in Spain and Portugal

Journal of Rare Diseases
Background Neurofibromatosis (NF) is a genetic disorder of the nervous system that causes the growth of tumours on nerve tissues. There are three main types of NF: NF1, NF2-related schwannomatosis, and non-NF2-related schwannomatosis, each associated ...
Joan Lluis Vinent, Joao Passos, Aitana Aguilera, Ana Elisabete Pires, Laura Benedito-Palos, Laura Gutiérrez, Anna Ribera, Ignacio Blanco   +7 more
doaj   +1 more source

Toward an Early Diagnosis for Alzheimer's Disease Based on the Perinuclear Localization of the ATM Protein. [PDF]

Cells, 2023
Berthel E, Pujo-Menjouet L, Le Reun E, Sonzogni L, Al-Choboq J, Chekroun A, Granzotto A, Devic C, Ferlazzo ML, Pereira S, Bourguignon M, Foray N.   +11 more
europepmc   +1 more source

Adenocarcinoma primário de duodeno: relato de dois casos do serviço de gastroenterologia cirúrgica do Hospital do Servidor Público Estadual "Francisco Morato de Oliveira" - IAMSPE - São Paulo - SP. [PDF]

, 1987
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Clínica Cirúrgica, Curso de Medicina, Florianópolis ...
Heinisch, Antônio Carlos
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Le gradient entre la pression pulmonaire artérielle diastolique et la pression pulmonaire d'occlusion est important dans l'évaluation des hypertensions pulmonaires post- capillaires [PDF]

, 2012
Les hypertensions pulmonaires post-capillaires sont définies par une pression artérielle moyenne (PAPm) ≥ 25mmHg et une pression pulmonaire d'occlusion (PAPO) > 15mmHg.
Stettler, S.
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Escoliose Distrófica na Neurofibromatose Tipo I

Gazeta Médica, 2016
A neurofibromatose tipo 1 (NF-I) é uma patologia hereditária autossómica dominante, na qual deformidades da coluna vertebral podem manifestar-se em idades muito precoces.
Germano Nascimento, Jorge Mineiro, João Cannas, Luís Barroso   +3 more
doaj  

The Tip of the Iceberg: Cutaneous Manifestations of Paediatric Diseases with Neurological Involvement [PDF]

, 2015
Introdução: Algumas alterações cutâneas podem ser as primeiras manifestações clínicas de diversas entidades nosológicas com atingimento sistémico. O presente trabalho tem como objectivo rever a semiologia dermatológica relevante no contexto das doenças ...
Afonso, P, Brasileiro, A, Diamantino, F, Paiva Lopes, MJ   +3 more
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