✦ LIBER ✦

Distinct neurological features in a patient with Schinzel–Giedion syndrome caused by a recurrentSETBP1mutation

✍ Scribed by Jung Min Ko, Byung Chan Lim, Ki Joong Kim, Yong Seung Hwang…

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A patient with Dent disease and features

✍ Takayuki Okamoto; Toshihiro Tajima; Tomoya Hirayama; Satoshi Sasaki 📂 Article 📅 2011 🏛 Springer 🌐 English ⚖ 90 KB

A novelCIAS1mutation in a Japanese patie

✍ Hidetoshi Takada; Koichi Kusuhara; Akihiko Nomura; Shouichi Ohga; Mikiko Hayashi 📂 Article 📅 2005 🏛 Springer 🌐 English ⚖ 254 KB

A left ventricular noncompaction in a pa

✍ Kentaro Nakashima, Isao Kusakawa, Tsuyoshi Yamamoto… 📂 Article 📅 2012 🏛 Springer 🌐 English ⚖ 513 KB

SCN1A mutation screening in adult patien

✍ Kaja Kristine Selmer; Caroline Lund; Kristin Brandal; Dag Erik Undlien; Eylert B 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 129 KB

Early clinical features in Dravet syndro

✍ Cristina Petrelli; Claudia Passamonti; Elisabetta Cesaroni; Davide Mei; Renzo Gu 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 181 KB

Aberrant splicing caused by aMLH1splice

✍ Masanobu Takahashi,Yoichi Furukawa,Hideki Shimodaira,Masato Sakayori… 📂 Article 📅 2012 🏛 Springer Netherlands 🌐 English ⚖ 534 KB