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Items: 4

1.
Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome
Doğuş Vurallı, Nazlı Gönç, Dominique Vidaud, Alev Özön, Ayfer Alikaşifoğlu, Nurgün Kandemir
J Clin Res Pediatr Endocrinol. 2016 Mar; 8(1): 96–100. Published online 2016 Mar 1. doi: 10.4274/jcrpe.2070
PMCID:
PMC4805056
ArticlePDF–130K
2.
Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas
Giovanni Ponti, Lorena Losi, Davide Martorana, Manuela Priola, Elisa Boni, Annamaria Pollio, Tauro Maria Neri, Stefania Seidenari
Hered Cancer Clin Pract. 2011; 9(1): 6. Published online 2011 Aug 12. doi: 10.1186/1897-4287-9-6
PMCID:
PMC3199899
ArticlePDF–2.1M
3.
The Spectrum of NF1 Mutations in Korean Patients with Neurofibromatosis Type 1
Seon-Yong Jeong, Sang-Jin Park, Hyon J. Kim
J Korean Med Sci. 2006 Feb; 21(1): 107–112. Published online 2006 Feb 20. doi: 10.3346/jkms.2006.21.1.107
PMCID:
PMC2733956
ArticlePDF–91K
4.
Minor Lesion Mutational Spectrum of the Entire NF1 Gene Does Not Explain Its High Mutability but Points to a Functional Domain Upstream of the GAP-Related Domain
Raimund Fahsold, Sven Hoffmeyer, Claudia Mischung, Christoph Gille, Christian Ehlers, Nazan Kücükceylan, Maher Abdel-Nour, Andreas Gewies, Hartmut Peters, Dieter Kaufmann, Annegret Buske, Sigrid Tinschert, Peter Nürnberg
Am J Hum Genet. 2000 Mar; 66(3): 790–818. Published online 2000 Mar 10. doi: 10.1086/302809
PMCID:
PMC1288164
ArticlePDF–544K

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