✦ LIBER ✦

A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands

✍ Scribed by van Minkelen, R.; van Bever, Y.; Kromosoeto, J.N.R.; Withagen-Hermans, C.J.; Nieuwlaat, A.; Halley, D.J.J.; van den Ouweland, A.M.W.

Book ID: 120581209
Publisher: John Wiley and Sons
Year: 2013
Tongue: English
Weight: 588 KB
Volume: 85
Category: Article
ISSN: 0009-9163
DOI: 10.1111/cge.12187

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Neurofibromatosis type 1: A model condit

Neurofibromatosis type 1: A model condition for the study of the molecular basis of variable expressivity in human disorders

✍ Carey, John C.; Viskochil, David H. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 13 KB 👁 1 views

Neurofibromatosis type 1 (NF1) is a pleiotropic autosomal dominant disorder with marked variability of clinical expression. As in other heritable disorders, the mapping and cloning of the gene responsible for NF1 have increased our understanding of the pathogenesis of the condition. In particular, t

Soft-tissue perineurioma in a 20-year-ol

Soft-tissue perineurioma in a 20-year-old patient with neurofibromatosis type 1 (NF1): report of a case and review of the literature

✍ Gregory G. Ausmus; Melissa P. Piliang; Wilma F. Bergfeld; John R. Goldblum 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 371 KB

A 1-year Aspergillus terreus surveillanc

A 1-year Aspergillus terreus surveillance study at the University Hospital of Innsbruck: molecular typing of environmental and clinical isolates

✍ G. Blum; S. Perkhofer; K. Grif; A. Mayr; G. Kropshofer; D. Nachbaur; R. Kafka-Ri 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 115 KB

P09.5 Diagnostic accuracy and clinical v

P09.5 Diagnostic accuracy and clinical value of multiple T2-hyperintensities on brain MRI in early diagnosis of neurofibromatosis type 1 (NF1) in children: a cross-sectional study

✍ Z. Sabol; B. Rešić; M. Kovac Sizgoric; R. Gjergja Juraški; L.J. Cvitanovć-Šojat; 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 36 KB

Molecular epidemiology of clinical and e

Molecular epidemiology of clinical and environmental isolates of the Cryptococcus neoformans species complex reveals a high genetic diversity and the presence of the molecular type VGII mating type a in Colombia

✍ Patricia Escandón; Adriana Sánchez; Marcela Martínez; Wieland Meyer; Elizabeth C 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 421 KB

Molecular genetic and clinical review of

Molecular genetic and clinical review of Ehlers–Danlos Type VIIA: implications for management by the plastic surgeon in a multidisciplinary setting

✍ Iain S. Whitaker; Warren M. Rozen; Scott A. Cairns; John Howes; Francis Michael 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 519 KB