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收藏RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis
Farooq, Muhammad; Lindbaek, Louise; Krogh, Nicolai; Doganli, Canan; Keller, Cecilie; Monnich, Maren; Goncalves, Andre Bras; Sakthivel, Srinivasan; Mang, Yuan; Fatima, Ambrin; Andersen, Vivi Sogaard; Hussain, Muhammad S.; Eiberg, Hans; Hansen, Lars; Kjaer, Klaus Wilbrandt; Gopalakrishnan, Jay; Pedersen, Lotte Bang; Mollgard, Kjeld; Nielsen, Henrik; Baig, Shahid M.; Tommerup, Niels; Christensen, Soren Tvorup; Larsen, Lars Allan
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收藏A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers
Klar, Joakim; Ali, Zafar; Farooq, Muhammad; Khan, Kamal; Wikstrom, Johan; Iqbal, Maria; Zulfiqar, Shumaila; Faryal, Sanam; Baig, Shahid Mahmood; Dahl, Niklas
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收藏Mutation Analysis of the IL36RN Gene in 14 Japanese Patients with Generalized Pustular Psoriasis
Farooq, Muhammad; Nakai, Hiroyuki; Fujimoto, Atsushi; Fujikawa, Hiroki; Matsuyama, Asako; Kariya, Naoyuki; Aizawa, Atsuko; Fujiwara, Hiroshi; Ito, Masaaki; Shimomura, Yutaka
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收藏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
Farooq, Muhammad; Troelsen, Jesper T.; Boyd, Mette; Eiberg, Hans; Hansen, Lars; Hussain, Muhammad Sajid; Rehman, Shoaib Ur; Azhar, Aysha; Ali, Amjad; Bakhtiar, Syeda Marriam; Tommerup, Niels; Baig, Shahid Mahmood; Kjaer, Klaus W.
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