✦ LIBER ✦

The co-occurrence of neurofibromatosis type I and nail-patella syndrome in a 5-generation pedigree

✍ Scribed by Ashley R. Mason; Stefanie A. Hirano; Valerie M. Harvey

Book ID: 116586977
Publisher: Elsevier Science
Year: 2011
Tongue: English
Weight: 149 KB
Volume: 65
Category: Article
ISSN: 1097-6787
DOI: 10.1016/j.jaad.2010.06.042

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A variable combination of features of No

A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene

✍ Ulrike Hüffmeier; Martin Zenker; Juliane Hoyer; Raimund Fahsold; Anita Rauch 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 204 KB 👁 1 views

## Abstract Signs of neurofibromatosis type 1 (NF1) and Noonan syndrome (NS), two distinct autosomal dominant disorders, occur together in patients reported as Watson syndrome (WS), neurofibromatosis‐Noonan syndrome (NFNS), partial LEOPARD syndrome, NS with features of NF1, and NF1 with Noonan‐like

Optic pathway glioma as part of a consti

Optic pathway glioma as part of a constitutional mismatch-repair deficiency syndrome in a patient meeting the criteria for neurofibromatosis type 1

✍ Jacky T. Yeung; Ian F. Pollack; Sapana Shah; Ronald Jaffe; Marina Nikiforova; Re 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 328 KB

The mechanism of generation of the donor

The mechanism of generation of the donor- and acceptor-type defects in then-TiNiSn semiconductor heavily doped with Co impurity

✍ V. A. Romaka; Yu. V. Stadnyk; D. Fruchart; T. I. Dominuk; L. P. Romaka; P. Rogl; 📂 Article 📅 2009 🏛 Springer 🌐 English ⚖ 237 KB

About the occurrence of tetrahedrally co

About the occurrence of tetrahedrally co-ordinated Sn4+and Ti4+in the new synthetic garnet-type solid solution Ca3Sn3−xTixFe2O12(0.25⩽x⩽1.50)

✍ B. Cartie; F. Archaimbault; J. Choisnet; A. Rulmont; P. Tarte; I. Abs-Wurmbach 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 347 KB

Pyrimidine-5′-nucleotidase Campinas, a n

Pyrimidine-5′-nucleotidase Campinas, a new mutation (p.R56G) in the NT5C3 gene associated with pyrimidine-5′-nucleotidase type I deficiency and influence of Gilbert's Syndrome on clinical expression

✍ dos Santos, Andrey; Dantas, Larissa Elizabeth Cordeiro; Traina, Fabiola; de Albu 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 975 KB

Reformatsky-type addition of esters of α

Reformatsky-type addition of esters of α-halogeno carboxylic acids to aldehydes and ketones in the presence of Fe(CO)5

✍ A. B. Terent'ev; T. T. Vasil'eva; N. A. Kuz'mina; E. I. Mysov; N. S. Ikonnikov; 📂 Article 📅 1999 🏛 Springer 🌐 English ⚖ 623 KB