✦ LIBER ✦

TRPV4-associated skeletal dysplasias

✍ Scribed by Gen Nishimura; Ekkehart Lausch; Ravi Savarirayan; Masahiro Shiba; Juergen Spranger; Bernhard Zabel; Shiro Ikegawa; Andrea Superti-Furga; Sheila Unger

Book ID: 111995389
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 545 KB
Volume: 160C
Category: Article
ISSN: 1552-4868
DOI: 10.1002/ajmg.c.31335

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Skeletal dysplasias

✍ Jane A. Hurst; Helen V. Firth; Sarah Smithson 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 148 KB

The importance of conventional radiograp

The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family)

✍ Stefan F. Nemec; Daniel H. Cohn; Deborah Krakow; Vincent A. Funari; David L. Rim 📂 Article 📅 2011 🏛 Springer-Verlag 🌐 English ⚖ 609 KB

Neonatal skeletal dysplasias

✍ Shawn E. Parnell; Grace S. Phillips 📂 Article 📅 2012 🏛 Springer-Verlag 🌐 English ⚖ 506 KB

The skeletal dysplasias

✍ Ravi Savarirayan; David L Rimoin 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 960 KB

TRPV4-pathy manifesting both skeletal dy

TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients

✍ Tae-Joon Cho; Kazu Matsumoto; Virginia Fano; Jin Dai; Ok-Hwa Kim; Jong Hee Chae; 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 330 KB

Understanding the skeletal dysplasias

✍ R.R. Brown; F. Monsell 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 855 KB