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43篇 您的检索式:作者名="Huizing M"
    题名 作者 年代 出处 被引量
1Optic atrophies in metabolic disorders显示文摘Huizing M Brooks BP Anikster Y 2005Mol Genet Metab2005,86,12:1
2Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics显示文摘Huizing M Helip-Wooley A Westbroek W 2008Annu Rev Genomies Hum Genet2008,9,:1
3Hermansky - Pudlak syndrome type 3 in Ashkenazi Jews and other non- Puerto Rican patients with hypopigmentation and platelet storage - pool deficiency显示文摘Huizing M Anikster Y Fitzpatrick DL 2001AmJ Hum Genet2001,69,:1
4Hermansky - Pudlak syndrome type 4 (HPS- 4): clinical and molecular characteristics显示文摘Anderson PD Huizing M Claassen DA 2003Hum Genet2003,113,:1
5Dos-finding and sequencing stuty of paclitaxel and carboplatin in non-small cell lung cancer显示文摘 Huizing M Postmus PE 1995Semin Oncol1995,22,49:1
6Hermansky-Pudlak syndrome type 1:gene organization,novel mutations,and clinical-molecular review of non-Puerto Rican cases显示文摘Hermos CR Huizing M Kaiser-Kupfer MI 2002Hum Mutat2002,20,6:1
7Hermansky–Pudlak Syndrome:Vesicle Formation from Yeast to Man显示文摘Huizing M Boissy RE Gzhl WA 2002Pigment Cell Res2002,15,:1
8Two novel mutations identified in an african-american child with Chediak-Higashi syndrome 显示文摘Morrone K Wang Y Huizing M 2010Case Report Med2010,2010,96:1
9Hermansky- Pudlak syndrome and related disorders of organelle formation显示文摘Huizing M Anikster Y Gahl WA 2000Traffic2000,1,:1
10Hermansky- pudlak syndrome: vesicle formation from yeast to man显示文摘Huizing M Boissy RE Gahl WA etal 2002Pigment Cell Res2002,15,:1
11Transformation of the cuhivatedmushrcom, Agaricus bisporus, to hygromycin B resistance 显示文摘VAN DE RI-IEE M D GRAA P M A HUIZING H J 1996Molecularand General Genetics1996,250,3:1
12Design methodology for membrane based plate and frame fuel cell humidifiers显示文摘HUIZING R FOWLER M MERIDA W 0,,180:1
13Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex- 3 and severe Hermansky- Pudlak syndrome type 2显示文摘Huizing M Scher CD Strovel E 2002Pediatr Res2002,51,:1
14Cisplatin - induced ototoxicity: morphological evidence of spontaneous outer hair cell recovery in albino guinea pigs? 显示文摘CARDINAAL R M DE GROOT J C HUIZING E H 2000Hear Res2000,144,:1
15Mutation of a new gene causes a unique form of Hermansky- Pudlak syndrome in a genetic isolate of central Puerto Rico显示文摘Anikster Y Huizing M White J 2001Nat Genet2001,28,:1
16Hereditary inclusion body myopathy:a decade of progress显示文摘Huizing M Krasnewich DM 2009Biochim Biophys Acta2009,1792,9:1
17Cellular defects inChediak-Higashi syndrome correlate with the molecular genotypeand clinical phenotype显示文摘Westbroek W Adams D Huizing M 2007J Invest Dermatol2007,127,11:1
18OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria显示文摘Huizing M 2010Mol Genet Metab2010,100,2:1
19Hypersensitivity reactions to the taxanes paclitaxel and docetaxel 显示文摘NANNAN P R HUIZING M T VERMORKEN J B 1997Clin Drug Inxestig1997,14,5:1
20Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYOSA 显示文摘Anikster Y Huizing M Anderson P D 2002Am J Hum Genet2002,71,2:1
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