✦ LIBER ✦

A girl with severe expression of the Holt-Oram gene

✍ Scribed by R. J. M. Gardner; Patricia M. Buckfield; A. M. O. Veale

Book ID: 119838044
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 342 KB
Volume: 4
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1973.tb01170.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A gene for Holt–Oram syndrome maps to th

A gene for Holt–Oram syndrome maps to the distal long arm of chromosome 12

✍ Bonnet, Damien; Pelet, Anna; Legeai-Mallet, Laurence; Sidi, Daniel; Mathieu, Mic 📂 Article 📅 1994 🏛 Nature Publishing Group 🌐 English ⚖ 399 KB

Holt–Oram syndrome with right lung agene

Holt–Oram syndrome with right lung agenesis caused by a de novo mutation in the TBX5 gene

✍ Yu-Ru Tseng; Yi-Ning Su; Frank Leigh Lu; Suh-Fang Jeng; Wu-Shiun Hsieh; Chien-Yi 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 83 KB 👁 2 views

Holt–Oram syndrome associated with anoma

Holt–Oram syndrome associated with anomalies of the feet

✍ L. Garavelli; D. De Brasi; R. Verri; E. Guareschi; F. Cariola; D. Melis; G. Calc 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 184 KB 👁 2 views

Recurrent severe infections in a girl wi

Recurrent severe infections in a girl with apparently variable expression of mosaicism for chronic granulomatous disease

✍ Richard B. Johnston III; Ronald J. Harbeck; Richard B. Johnston Jr. 📂 Article 📅 1985 🏛 Elsevier Science 🌐 English ⚖ 475 KB

A small homozygous microdeletion of 15q1

A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features

✍ Jun Liao; Stephanie J. DeWard; Suneeta Madan-Khetarpal; Urvashi Surti; Jie Hu 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 376 KB 👁 2 views

## Abstract A broad spectrum of neurodevelopmental and psychiatric disorders with variable expressivity has been reported to be associated with 15q13.3 heterozygous microdeletions. Using oligonucleotide‐based array‐CGH analysis, we identified a small homozygous 15q13.3 deletion in a 6‐year‐old girl

Interventional cardiac catheterization f

Interventional cardiac catheterization for the coarctation of the aortic arch and patent ductus arteriosus in a 3-day-old neonate with the Holt–Oram syndrome

✍ Meng-Luen Lee; Lon-Yen Tsao; Yu-Mei Wang 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 133 KB