Showing 1–8 of 8 results
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Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS
- Muhammad Farooq
- , Jesper T Troelsen
- , Mette Boyd
- , Hans Eiberg
- , Lars Hansen
- , Muhammad Sajid Hussain
- , Shoaib ur Rehman
- , Aysha Azhar
- , Amjad Ali
- , Syeda Marriam Bakhtiar
- , Niels Tommerup
- , Shahid Mahmood Baig
- & Klaus W Kjaer
European Journal of Human Genetics 18 , 733–736 -
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Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
- Carol-Anne Martin
- , Ilyas Ahmad
- , Anna Klingseisen
- , Muhammad Sajid Hussain
- , Louise S Bicknell
- , Andrea Leitch
- , Gudrun Nürnberg
- , Mohammad Reza Toliat
- , Jennie E Murray
- , David Hunt
- , Fawad Khan
- , Zafar Ali
- , Sigrid Tinschert
- , James Ding
- , Charlotte Keith
- , Margaret E Harley
- , Patricia Heyn
- , Rolf Müller
- , Ingrid Hoffmann
- , Valérie Cormier Daire
- , Hélène Dollfus
- , Lucie Dupuis
- , Anu Bashamboo
- , Kenneth McElreavey
- , Ariana Kariminejad
- , Roberto Mendoza-Londono
- , Anthony T Moore
- , Anand Saggar
- , Catie Schlechter
- , Richard Weleber
- , Holger Thiele
- , Janine Altmüller
- , Wolfgang Höhne
- , Matthew E Hurles
- , Angelika Anna Noegel
- , Shahid Mahmood Baig
- , Peter Nürnberg
- & Andrew P Jackson
