✦ LIBER ✦

A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet–Biedl syndrome in a Pakistani family

✍ Scribed by Agha, Zehra; Iqbal, Zafar; Azam, Maleeha; Hoefsloot, Lies H.; van Bokhoven, Hans; Qamar, Raheel

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel homozygous mutations in the genes

✍ Khan, Saadullah; Ullah, Imran; Irfanullah, ; Touseef, Muhammad; Basit, Sulman; K 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 783 KB

Clinical evidence of decreased olfaction

✍ Alessandro Iannaccone; Kirk Mykytyn; Antonio M. Persico; Charles C. Searby; Alfo 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 82 KB 👁 2 views

Two sibs with Bardet–Biedl syndrome due

✍ Eelco Dulfer; Lies H. Hoefsloot; Albertus Timmer; Constantijne Mom; Anthonie J. 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 127 KB 👁 2 views

A novel homozygous 5 bp deletion in

✍ E.D. Setijowati; F.S. van Dijk; J.M. Cobben; R.R. van Rijn; E.A. Sistermans; S.M 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 489 KB

A novel homozygous 62-bp insertion in EC

✍ M. Nasir; A. Latif; M. Ajmal; M. Ismail; A. Hameed 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 229 KB

A novel homozygous deletion in NDUFS4 ca

✍ Elisa Fassone; Andrew J. Duncan; James V. Leonard; Shamima Rahman⁎ 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 62 KB