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收藏分享 收藏 Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders
Mitani, Tadahiro; Punetha, Jaya; Akalin, Ibrahim; Pehlivan, Davut; Dawidziuk, Mateusz; Akdemir, Zeynep Coban; Yilmaz, Sarenur; Aslan, Ezgi; Hunter, Jill V.; Hijazi, Hadia; Grochowski, Christopher M.; Jhangiani, Shalini N.; Karaca, Ender; Fatih, Jawid M.; Iwanowski, Piotr; Gambin, Tomasz; Wlasienko, Pawel; Goszczanska-Ciuchta, Alicja; Bekiesinska-Figatowska, Monika; Hosseini, Masoumeh; Arzhangi, Sanaz; Najmabadi, Hossein; Rosenfeld, Jill A.; Du, Haowei; Marafi, Dana; Blaser, Susan; Teitelbaum, Ronni; Silver, Rachel; Posey, Jennifer E.; Ropers, Hans-Hilger; Gibbs, Richard A.; Wiszniewski, Wojciech; Lupski, James R.; Chitayat, David; Kahrizi, Kimia; Gawlinski, Pawel 分享 收藏 Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of ComplementKapferer-Seebacher, Ines; Pepin, Melanie; Werner, Roland; Aitman, Timothy J.; Nordgren, Ann; Stoiber, Heribert; Thielens, Nicole; Gaboriaud, Christine; Amberger, Albert; Schossig, Anna; Gruber, Robert; Giunta, Cecilia; Bamshad, Michael; Bjorck, Erik; Chen, Christina; Chitayat, David; Dorschner, Michael; Schmitt-Egenolf, Marcus; Hale, Christopher J.; Hanna, David; Hennies, Hans Christian; Heiss-Kisielewsky, Irene; Lindstrand, Anna; Lundberg, Pernilla; Mitchell, Anna L.; Nickerson, Deborah A.; Reinstein, Eyal; Rohrbach, Marianne; Romani, Nikolaus; Schmuth, Matthias; Silver, Rachel; Taylan, Fulya; Vandersteen, Anthony; Vandrovcova, Jana; Weerakkody, Ruwan; Yang, Margaret; Pope, F. Michael; Byers, Peter H.; Zschocke, Johannes 分享 收藏 Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of EncephalopathyRuzzo, Elizabeth K.; Capo-Chichi, Jose-Mario; Ben-Zeev, Bruria; Chitayat, David; Mao, Hanqian; Pappas, Andrea L.; Hitomi, Yuki; Lu, Yi-Fan; Yao, Xiaodi; Hamdan, Fadi F.; Pelak, Kimberly; Reznik-Wolf, Haike; Bar-Joseph, Fat; Oz-Levi, Danit; Lev, Dorit; Lerman-Sagie, Tally; Leshinsky-Silver, Esther; Anikster, Yair; Ben-Asher, Edna; Olender, Tsviya; Colleaux, Laurence; Decarie, Jean-Claude; Blaser, Susan; Banwell, Brenda; Joshi, Rasesh B.; He, Xiao-Ping; Patry, Lysanne; Silver, Rachel J.; Dobrzeniecka, Sylvia; Islam, Mohammad S.; Hasnat, Abul; Samuels, Mark E.; Aryal, Dipendra K.; Rodriguiz, Ramona M.; Jiang, Yong-hui; Wetsel, William C.; McNamara, James O.; Rouleau, Guy A.; Silver, Debra L.; Lancet, Doron; Pras, Elon; Mitchell, Grant A.; Michaud, Jacques L.; Goldstein, David B. 分享 收藏 分享 收藏 分享 收藏 
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