✦ LIBER ✦

MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features

✍ Scribed by Mitter, D.; Schanze, D.; Sterker, I.; Müller, D.; Till, H.; Zenker, M.

Book ID: 119939040
Publisher: S. Karger AG
Year: 2012
Tongue: English
Weight: 201 KB
Category: Article
ISSN: 1661-8769
DOI: 10.1159/000341501

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Molecular characterization of an 11q int

Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome

✍ Sharon L. Wenger; Paul D. Grossfeld; Benjamin L. Siu; James E. Coad; Frank G. Ke 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 236 KB 👁 3 views

Additional clinical and molecular analys

Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient

✍ Judith Reiber; Yves Sznajer; Elena Guillén Posteguillo; Dietmar Müller; Stanisla 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 43 KB 👁 2 views

Prenatal diagnosis and molecular genetic

Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene

✍ Chih-Ping Chen; Schu-Rern Chern; Tung-Yao Chang; Yi-Ning Su; Yi-Yung Chen; Jun-W 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 796 KB