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- [21] Egyptian glycogen storage disease type III - identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIIdCLINICAL CHEMISTRY AND LABORATORY MEDICINE, 2009, 47 (10) : 1233 - 1238Endo, YorikoFateen, EkramEl Shabrawy, MortadaAoyama, YoshikoEbara, TetsuMurase, ToshioPodskarbi, TeodorShin, Yoon S.Okubo, Minoru
- [22] Dramatic Response to Lorlatinib in a Heavily Pretreated Lung Adenocarcinoma Patient Harboring G1202R Mutation and a Synchronous Novel R1192P ALK Point MutationJOURNAL OF THORACIC ONCOLOGY, 2018, 13 (08) : E145 - E147Baglivo, SaraRicciuti, BiagioLudovini, ViennaMetro, GiulioSiggillino, AnnamariaDe Giglio, AndreaChiari, Rita
- [23] Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 geneBRITISH JOURNAL OF OPHTHALMOLOGY, 2008, 92 (01) : 135 - 141Kaplan, Y.Vargel, I.Kansu, T.Akin, B.Rohmann, E.Kamaci, S.Uz, E.Ozcelik, T.Wollnik, B.Akarsu, N. A.
- [24] A novel heterozygous missense ADAMTS13 mutation (G3368A) in a patient diagnosed with thrombotic thrombocytopenic purpura due to reduced ADAMTS13 activity and low titer of anti-ADAMTS 13 antibodyJOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2013, 11 : 756 - 756Calderazzo, J. C.Kempfer, A. C.Powazniak, Y.Sanchez-Luceros, A.Woods, A., IPaiva, J. H.Lazzari, M. A.
- [25] Identification of two novel missense mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) gene in a Japanese patient with pseudoxanthoma elasticum (PXE)INTERNAL MEDICINE, 2004, 43 (12) : 1171 - 1176Noji, YInazu, AHigashirata, TNohara, AKawashiri, MYu, WXTodo, YNozue, TUno, YHifumi, SMabuchi, H
- [26] A novel mutation (Gln433Glu) in exon 12 combined with the G insertion in exon 13 causes severe factor XI deficiency in Japanese patientsBLOOD COAGULATION & FIBRINOLYSIS, 2007, 18 (05) : 519 - 523Ishikawa, NobutsuneOkada, SatoshiSato, TakashiYasunaga, Shin'ichiroOhtsubo, MotoakiTakihara, YoshihiroKobayashi, Masao
- [27] An Elderly Japanese Patient with Adult-onset Type II Citrullinemia with a Novel D493G Mutation in the SLC25A13 GeneINTERNAL MEDICINE, 2012, 51 (16) : 2131 - 2134Takahashi, YoshimiKoyama, ShingoTanaka, HidetomoArawaka, ShigekiWada, ManabuKawanami, ToruHaga, HiroakiWatanabe, HisayoshiToyota, KentaroNumakura, ChikahikoHayasaka, KiyoshiKato, Takeo
- [28] Identification by array-Comparative Genomic Hybridization (array-CGH) of a large deletion of luteinizing hormone receptor gene combined with a missense mutation in a patient diagnosed with a 46,XY disorder of sex development and application to prenatal diagnosisENDOCRINE JOURNAL, 2011, 58 (09) : 769 - 776Richard, NicolasLeprince, CelineGruchy, NicolasPigny, PascalAndrieux, JorisMittre, HerveManouvrier, SylvieLahlou, NajibaWeill, JacquesKottler, Marie-Laure
- [29] A novel homozyous missense mutation in the P2RY12 gene results in defective ADP-mediated platelet activation in a patient suffering from a chronic bleeding disorderJOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2011, 9 : 342 - 342Patel, Y. M.McCormick, A. N.Mitchell, M.Maloney, J.Austin, S. K.
- [30] Novel IRF6 mutations in Japanese patients with Van der Woude Syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletionJournal of Human Genetics, 2003, 48 : 622 - 628Shuji KayanoShigeo KureYoichi SuzukiKiyoshi KannoYoko AokiShinji KondoBrian C. SchutteJeffrey C. MurrayAtsushi YamadaYoichi Matsubara