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17篇 您的检索式:作者名="Strom TM"
    题名 作者 年代 出处 被引量
1Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism显示文摘Zanaria E Muscatelli F Strom TM 1994Nature1994,372,6507:1
2An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia显示文摘Benet-Pagès A Orlik P Strom TM 2005Hum Mol Genet2005,14,3:1
3DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis显示文摘Lorenz-Depiereux B Bastepe M Benet-Pages A Amyere M Wagenstaller J Muller-Barth U Badenhoop K Kaiser SM Rittmaster RS Shlossberg AH Olivares JL Loris C Ramos FJ Glorieux F Vikkula M Juppner H Strom TM 0,,11:1
4Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets显示文摘Francis F Strom TM Hennig S 1997Genome Res1997,7,6:1
5Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypo-phosphatemic rickets显示文摘Lorenz-Depiereux B Schnabel D Tiosano D Hausler G Strom TM 0,,:1
6Diabetes insipidus,diabetes mellitus,optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein显示文摘Strom TM Hortnagel K Hofmann S 1998Hum Mol Genet1998,7,:1
7Potential applicability of balloon catheter - based accelerated partial breast irradiation after conservative surgery for breast carcinoma显示文摘Pawlik TM Perry A Strom EA 2004Cancer2004,100,3:1
8Potential applicability of balloon catheter-based accelerated partial breast irradiation after conservative surgery for breast carcinoma显示文摘Pawlik TM Perry A Strom EA 2004Cancer2004,100,3:1
9Diabetes insipidus,diabetes mellitus,optic atrophy and deafness(DIDMOAD)caused by mutations in anovel gene(wolframin)ceding for a predicted transmembrane protein显示文摘Strom TM Hortnagel k Hofmann S 1998Hum Mol Genet1998,7,13:1
10Pex gene deletions in Gy and Hyp mice provide models for X-linked hypophosphatemia 显示文摘Strom TM 1997Hum Mol Genet1997,6,2:1
11An FGF23 missense mutation causes familial tumoral calcinosi s with hyperphosphatemia显示文摘Benet-Pages A Orl ik P Strom TM 2005Hum Mol Genet2005,14,:1
12Diabetes insipidus,diabetes mellitus,optic atrophy and deafness (DIDMOAD) caused by mu-tations in a novel gene (wolframin) coding for a predicted trans-membrane protein显示文摘Strom TM Hortnagel K Hofmann S Gekeler F Scharfe C Rabl W Gerbitz KD Meitinger T 0,,:1
13Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets显示文摘Francis F Strom TM Hennig S 1997Genome Res1997,7,:1
14Involvement of DFNB59 mutations in autosomal re-cessive nonsyndromic hearing impairment显示文摘Collin RW Kalay E Oostrik J Caylan R Wollnik B Arslan S den Hollander AI Birinci Y Lichtner P Strom TM Toraman B Hoefsloot LH Cremers CW Brunner HG Cremers FP Karaguzel A Kremer H 0,,07:1
15An L-type calciumchannel gene mutated in incomplete X-linked congenital stationary night blindness显示文摘 Nyakatura G Apfelstedt-Sylla E 1998Nature Genet1998,19,3:1
16An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness 显示文摘Strom TM Nyakatura G Apfelstedt-Sylla E Hellebrand H Lorenz B Weber BH Wutz K Gutwillinger N Ruther K Drescher B Sauer C Zrenner E Meitinger T R osenthal A Meindl A 1998Nat Genet1998,19,3:1
17Diabetes insipidus,diabetes mellitus,optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein显示文摘Strom TM Hortnagel K Hofmann S 0,,:1
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