Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts

Autor: Hyunglok Chung, Aamir Nazir, Federico Santoni, Alkistis Manousopoulou, Hugo J. Bellen, Khitab Gul, Graeme C.M. Black, Maqsood Ali Ansari, Stylianos E. Antonarakis, Muhammad Ansar, Rachel L. Taylor, Constantin J. Pournaras, Samina Imtiaz, Emilie Falconnet, Jawad Ahmed, Inayat Shah, Sondas Saeed, Periklis Makrythanasis, Michel Guipponi, Muhammad T. Sarwar, Emmanuelle Ranza

Publikováno v: Taylor, R L & Black, G 2018, ' Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts ', American Journal of Human Genetics, vol. 103, no. 4, pp. 568-578 . https://doi.org/10.1016/j.ajhg.2018.09.004

Infantile and childhood-onset cataracts form a heterogeneous group of disorders; among the many genetic causes, numerous pathogenic variants in additional genes associated with autosomal-recessive infantile cataracts remain to be discovered. We ident

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64dd3f45d6e6b70caf69d2d3b3c7a9c6
https://doi.org/10.1016/j.ajhg.2018.09.004

Screening and characterization of biosurfactant-producing bacteria isolated from the Arabian Sea coast of Karachi

Autor: Bashir Ahmed, Saba Butt, Khaizran Siddiqui, Maheen Waqar, Shahid Hussain, Nuzhat Ahmed, Jameela Akhter, Saema Khan, Qurat ul Ain Shaikh, Erum Shoeb, Maqsood Ali Ansari, Sidra Khan, Nimrah Akhtar, Faiza A. Ansari, Roaunq Baig, Uzma Badar, Samina Imtiaz

Publikováno v: Volume: 39, Issue: 2
Turkish Journal of Biology

The aim of the present study was to investigate biosurfactant-producing culturable bacteria inhabiting the coast of the Arabian Sea at Karachi. Overall, 15 seawater samples were collected from the Arabian Sea coast of Karachi. Isolation, characteriza

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4fb8126ecdcc2c8bfd1c1557324aa81
https://dergipark.org.tr/tr/pub/tbtkbiology/issue/11764/140580