| 臺大學術典藏 |
2020-12-16T02:25:12Z |
Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease – need for an earlier treatment?
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Chien Y.-H.;Lee N.-C.;Wuh-Liang Hwu;Fang J.-Y.; Chien Y.-H.; Lee N.-C.; WUH-LIANG HWU; Fang J.-Y. |
| 臺大學術典藏 |
2020-12-16T02:25:12Z |
Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period
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Fang Y.-Y.; Niu D.-M.; Chiu P.C.; Lo Y.-T.; Tu R.-Y.; Lee C.-L.; Chuang C.-K.; Lin H.-Y.; Lin H.-Y.;Chuang C.-K.;Lee C.-L.;Tu R.-Y.;Lo Y.-T.;Chiu P.C.;Niu D.-M.;Fang Y.-Y.;Chen T.-L.;Tsai F.-J.;Wuh-Liang Hwu;Lin S.J.;Chang T.-M.;Lin S.-P.; Chen T.-L.; Tsai F.-J.; WUH-LIANG HWU; Lin S.J.; Chang T.-M.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:12Z |
SHOX deficiency in short Taiwanese children: A single-center experience
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Tung Y.-C.;Lee N.-C.;Wuh-Liang Hwu;Liu S.-Y.;Lee C.-T.;Chien Y.-H.;Tsai W.-Y.; Tung Y.-C.; Lee N.-C.; WUH-LIANG HWU; Liu S.-Y.; Lee C.-T.; Chien Y.-H.; Tsai W.-Y. |
| 臺大學術典藏 |
2020-12-16T02:25:11Z |
Biparental inheritance of mitochondrial DNA in humans
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Luo S.;Valencia C.A.;Zhang J.;Lee N.-C.;Slone J.;Gui B.;Wang X.;Li Z.;Dell S.;Brown J.;Chen S.M.;Chien Y.-H.;Wuh-Liang Hwu;Fan P.-C.;Wong L.-J.;Atwal P.S.;Huang T.; Luo S.; Valencia C.A.; Zhang J.; Lee N.-C.; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.; Chien Y.-H.; WUH-LIANG HWU; Fan P.-C.; Wong L.-J.; Atwal P.S.; Huang T. |
| 臺大學術典藏 |
2020-12-16T02:25:11Z |
Results of fabry disease screening in male pre-end stage renal disease patients with unknown etiology found through the platform of a chronic kidney disease education program in a Northern Taiwan medical center
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Lin C.-J.;Chien Y.-H.;Lai T.-S.;Shih H.-M.;Chen Y.-C.;Pan C.-F.;Chen H.-H.;Wuh-Liang Hwu;Wu C.-J.; Lin C.-J.; Chien Y.-H.; Lai T.-S.; Shih H.-M.; Chen Y.-C.; Pan C.-F.; Chen H.-H.; WUH-LIANG HWU; Wu C.-J. |
| 臺大學術典藏 |
2020-12-16T02:25:11Z |
Performance of the four-plex tandem mass spectrometry lysosomal storage disease newborn screening test: The necessity of adding a 2nd tier test for Pompe disease
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Chiang S.-C.;Chen P.-W.;Wuh-Liang Hwu;Lee A.-J.;Chen L.-C.;Lee N.-C.;Chiou L.-Y.;Chien Y.-H.; Chiang S.-C.; Chen P.-W.; WUH-LIANG HWU; Lee A.-J.; Chen L.-C.; Lee N.-C.; Chiou L.-Y.; Chien Y.-H. |
| 臺大學術典藏 |
2020-12-16T02:25:10Z |
Functional independence of Taiwanese patients with mucopolysaccharidoses
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Lee C.-L.;Lin H.-Y.;Chuang C.-K.;Chiu H.-C.;Tu R.-Y.;Huang Y.-H.;Wuh-Liang Hwu;Tsai F.-J.;Chiu P.-C.;Niu D.-M.;Chen Y.-J.;Chao M.-C.;Chang T.-M.;Lin J.-L.;Chang C.-Y.;Kao Y.-C.;Lin S.-P.; Lee C.-L.; Lin H.-Y.; Chuang C.-K.; Chiu H.-C.; Tu R.-Y.; Huang Y.-H.; WUH-LIANG HWU; Tsai F.-J.; Chiu P.-C.; Niu D.-M.; Chen Y.-J.; Chao M.-C.; Chang T.-M.; Lin J.-L.; Chang C.-Y.; Kao Y.-C.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:10Z |
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases
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Posset R.;Garbade S.F.;Boy N.;Burlina A.B.;Dionisi-Vici C.;Dobbelaere D.;Garcia-Cazorla A.;De Lonlay P.;Teles E.L.;Vara R.;Mew N.A.;Batshaw M.L.;Baumgartner M.R.;Mccandless S.E.;Seminara J.;Summar M.;Hoffmann G.F.;K?Lker S.;Burgard P.;Berry S.A.;Burrage L.;Coughlin C.;Diaz G.A.;Gallagher R.C.;Gropman A.;Harding C.O.;Lee B.;Le Mons C.;Lawrence Merritt J.;Ii, Nagamani S.C.S.;Schulze A.;Stricker T.;Tuchman M.;Waisbren S.;Weisfeldadams J.;Wong D.;Yudkoff M.;Arnoux J.;BariĆI.;Bosch A.M.;Chabrol B.;Chakrapani A.;Cort?Ssaladefont E.;Couce M.L.;Eyskens F.;De Laet C.;De Meirleir L.;Freisinger P.;Gleich F.;Gr?Newald S.;H?Berle J.;Wuh-Liang Hwu;Jalan A.;Karall D.;Lindner M.;Lund A.M.;Martinelli D.;Murphy E.;M?Hlhausen C.;Olivieri G.;Ottolenghi C.;Rodrigues E.;Rubert L.;Sarajlija A.;Schiff M.;Sokal E.;Sykutcegielska J.;Walter J.H.;Williams M.;Zeman J.;Additional Individual Contributors Of The Ucdc;The E-Imd Consortium; Posset R.; Garbade S.F.; Boy N.; Burlina A.B.; Dionisi-Vici C.; Dobbelaere D.; Garcia-Cazorla A.; de Lonlay P.; Teles E.L.; Vara R.; Mew N.A.; Batshaw M.L.; Baumgartner M.R.; McCandless S.E.; Seminara J.; Summar M.; Hoffmann G.F.; K?lker S.; Burgard P.; Berry S.A.; Burrage L.; Coughlin C.; Diaz G.A.; Gallagher R.C.; Gropman A.; Harding C.O.; Lee B.; Le Mons C.; Lawrence Merritt J.; II, Nagamani S.C.S.; Schulze A.; Stricker T.; Tuchman M.; Waisbren S.; WeisfeldAdams J.; Wong D.; Yudkoff M.; Arnoux J.; Barić I.; Bosch A.M.; Chabrol B.; Chakrapani A.; Cort?sSaladefont E.; Couce M.L.; Eyskens F.; de Laet C.; de Meirleir L.; Freisinger P.; Gleich F.; Gr?newald S.; H?berle J.; WUH-LIANG HWU; Jalan A.; Karall D.; Lindner M.; Lund A.M.; Martinelli D.; Murphy E.; M?hlhausen C.; Olivieri G.; Ottolenghi C.; Rodrigues E.; Rubert L.; Sarajlija A.; Schiff M.; Sokal E.; SykutCegielska J.; Walter J.H.; Williams M.; Zeman J.; Additional individual contributors of the UCDC; the E-IMD consortium |
| 臺大學術典藏 |
2020-12-16T02:25:10Z |
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum
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Lee C.-T.;Tung Y.-C.;Wuh-Liang Hwu;Shih J.-C.;Lin W.-H.;Wu M.-Z.;Kuo K.-T.;Yang Y.-L.;Chen H.-L.;Chen M.;Su Y.-N.;Jong Y.-J.;Liu S.-Y.;Tsai W.-Y.;Lee N.-C.; Lee C.-T.; Tung Y.-C.; WUH-LIANG HWU; Shih J.-C.; Lin W.-H.; Wu M.-Z.; Kuo K.-T.; Yang Y.-L.; Chen H.-L.; Chen M.; Su Y.-N.; Jong Y.-J.; Liu S.-Y.; Tsai W.-Y.; Lee N.-C. |
| 臺大學術典藏 |
2020-12-16T02:25:09Z |
Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population
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Lee N.-C.; Huang T.-M.; Chou S.-P.; Ho H.-C.; Chang I.-F.; WUH-LIANG HWU; Chien Y.-H.; Hsu R.-H.;Chien Y.-H.;Wuh-Liang Hwu;Chang I.-F.;Ho H.-C.;Chou S.-P.;Huang T.-M.;Lee N.-C.; Hsu R.-H. |
| 臺大學術典藏 |
2020-12-16T02:25:09Z |
Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes
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Abdenur J.E.; Benke P.J.; Taft R.J.; WUH-LIANG HWU; Simon M.T.;Eftekharian S.S.;Stover A.E.;Osborne A.F.;Braffman B.H.;Chang R.C.;Wang R.Y.;Steenari M.R.;Tang S.;Wuh-Liang Hwu;Taft R.J.;Benke P.J.;Abdenur J.E.; Simon M.T.; Eftekharian S.S.; Stover A.E.; Osborne A.F.; Braffman B.H.; Chang R.C.; Wang R.Y.; Steenari M.R.; Tang S. |
| 臺大學術典藏 |
2020-12-16T02:25:09Z |
Congenital generalized lipodystrophy in Taiwan
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Hsu R.-H.;Lin W.-D.;Chao M.-C.;Hsiao H.-P.;Wong S.-L.;Chiu P.-C.;Chu S.-Y.;Ke Y.-Y.;Lau B.-H.;Chien Y.-H.;Wuh-Liang Hwu;Tsai F.-J.;Wang C.-H.;Lee N.-C.; Hsu R.-H.; Lin W.-D.; Chao M.-C.; Hsiao H.-P.; Wong S.-L.; Chiu P.-C.; Chu S.-Y.; Ke Y.-Y.; Lau B.-H.; Chien Y.-H.; WUH-LIANG HWU; Tsai F.-J.; Wang C.-H.; Lee N.-C. |
| 臺大學術典藏 |
2020-12-16T02:25:09Z |
Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiency
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Ho S.-Y.;Chien Y.-H.;Tsai L.-K.;Muramatsu S.-I.;Wuh-Liang Hwu;Liou H.-H.;Lee N.-C.; Ho S.-Y.; Chien Y.-H.; Tsai L.-K.; Muramatsu S.-I.; WUH-LIANG HWU; Liou H.-H.; Lee N.-C. |
| 臺大學術典藏 |
2020-12-16T02:25:08Z |
Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments
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Luo S.;Alexander Valencia C.;Zhang J.;Lee N.-C.;Slone J.;Gui B.;Wang X.;Li Z.;Dell S.;Brown J.;Chen S.M.;Chien Y.-H.;Wuh-Liang Hwu;Fan P.-C.;Wong L.-J.;Atwal P.S.;Huang T.; Luo S.; Alexander Valencia C.; Zhang J.; Lee N.-C.; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.; Chien Y.-H.; WUH-LIANG HWU; Fan P.-C.; Wong L.-J.; Atwal P.S.; Huang T. |
| 臺大學術典藏 |
2020-12-16T02:25:08Z |
Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)
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Wasserstein M.;Dionisi-Vici C.;Giugliani R.;Wuh-Liang Hwu;Lidove O.;Lukacs Z.;Mengel E.;Mistry P.K.;Schuchman E.H.;Mcgovern M.; Wasserstein M.; Dionisi-Vici C.; Giugliani R.; WUH-LIANG HWU; Lidove O.; Lukacs Z.; Mengel E.; Mistry P.K.; Schuchman E.H.; McGovern M. |
| 臺大學術典藏 |
2020-12-16T02:25:08Z |
Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs
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Hsu R.-H.;Wuh-Liang Hwu;Chen M.;Chung I.-F.;Peng S.S.-F.;Chen C.-Y.;Cheng W.-C.;Chien Y.-H.;Lee N.-C.; Hsu R.-H.; WUH-LIANG HWU; Chen M.; Chung I.-F.; Peng S.S.-F.; Chen C.-Y.; Cheng W.-C.; Chien Y.-H.; Lee N.-C. |
| 臺大學術典藏 |
2020-12-16T02:25:07Z |
Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
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Chu T.-H.;Chien Y.-H.;Lin H.-Y.;Liao H.-C.;Ho H.-J.;Lai C.-J.;Chiang C.-C.;Lin N.-C.;Yang C.-F.;Wuh-Liang Hwu;Lee N.-C.;Lin S.-P.;Liu C.-S.;Hu R.-H.;Ho M.-C.;Niu D.-M.; Chu T.-H.; Chien Y.-H.; Lin H.-Y.; Liao H.-C.; Ho H.-J.; Lai C.-J.; Chiang C.-C.; Lin N.-C.; Yang C.-F.; WUH-LIANG HWU; Lee N.-C.; Lin S.-P.; Liu C.-S.; Hu R.-H.; Ho M.-C.; Niu D.-M. |
| 臺大學術典藏 |
2020-12-16T02:25:07Z |
Decreased plasma L-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment
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Molema F.;Gleich F.;Burgard P.;Van Der Ploeg A.T.;Summar M.L.;Chapman K.A.;Lund A.M.;Rizopoulos D.;K?Lker S.;Williams M.;H?Rster F.;Jelsig A.M.;De Lonlay P.;Wijburg F.A.;Bosch A.;Freisinger P.;Posset R.;Augoustides-Savvopoulou P.;Avram P.;Deleanu C.;Baumgartner M.R.;H?Berle J.;Blasco-Alonso J.;Burlina A.B.;Rubert L.;Cazorla A.G.;Saladelafont E.C.I.;Dionisi-Vici C.;Martinelli D.;Dobbelaere D.;Mention K.;Gr?Newald S.;Chakrapani A.;Wuh-Liang Hwu;Chien Y.-H.;Lee N.-C.;Karall D.;Scholl-B?Rgi S.;De Laet C.;Matsumoto S.;De Meirleir L.;Schiff M.;Pe?A-Quintana L.;Djordjevic M.;Sarajlija A.;Sykut-Cegielska J.;Wisniewska A.;Leao-Teles E.;Alves S.;Vara R.;Vives-Pinera I.;Gil-Ortega D.;Morris A.;Zeman J.;Honzik T.;Chabrol B.;Arnaudo F.;Cano A.;Thompson N.;Eyskens F.;Lindner M.;L?Sebrink N.;Jalan A.;Sokal E.;Legros V.;Nassogne M.C.;Bari? I.;Additional Individual Contributors From E-Imd; Molema F.; Gleich F.; Burgard P.; van der Ploeg A.T.; Summar M.L.; Chapman K.A.; Lund A.M.; Rizopoulos D.; K?lker S.; Williams M.; H?rster F.; Jelsig A.M.; de Lonlay P.; Wijburg F.A.; Bosch A.; Freisinger P.; Posset R.; Augoustides-Savvopoulou P.; Avram P.; Deleanu C.; Baumgartner M.R.; H?berle J.; Blasco-Alonso J.; Burlina A.B.; Rubert L.; Cazorla A.G.; Saladelafont E.C.I.; Dionisi-Vici C.; Martinelli D.; Dobbelaere D.; Mention K.; Gr?newald S.; Chakrapani A.; WUH-LIANG HWU; Chien Y.-H.; Lee N.-C.; Karall D.; Scholl-B?rgi S.; De Laet C.; Matsumoto S.; de Meirleir L.; Schiff M.; Pe?a-Quintana L.; Djordjevic M.; Sarajlija A.; Sykut-Cegielska J.; Wisniewska A.; Leao-Teles E.; Alves S.; Vara R.; Vives-Pinera I.; Gil-Ortega D.; Morris A.; Zeman J.; Honzik T.; Chabrol B.; Arnaudo F.; Cano A.; Thompson N.; Eyskens F.; Lindner M.; L?sebrink N.; Jalan A.; Sokal E.; Legros V.; Nassogne M.C.; Bari? I.; Additional individual contributors from E-IMD |
| 臺大學術典藏 |
2020-12-16T02:25:06Z |
Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency
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Yu H.-H.;Hu T.-C.;Lee N.-C.;Chien Y.-H.;Yang Y.-H.;Wuh-Liang Hwu;Chiang B.-L.; Yu H.-H.; Hu T.-C.; Lee N.-C.; Chien Y.-H.; Yang Y.-H.; WUH-LIANG HWU; Chiang B.-L. |
| 臺大學術典藏 |
2020-12-16T02:25:06Z |
Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency
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Tseng C.-H.;Chien Y.-H.;Lee N.-C.;Hsu Y.-C.;Peng S.-F.;Tseng W.-Y.I.;Wuh-Liang Hwu; Tseng C.-H.; Chien Y.-H.; Lee N.-C.; Hsu Y.-C.; Peng S.-F.; Tseng W.-Y.I.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:06Z |
Ophthalmologic manifestations in Taiwanese patients with mucopolysaccharidoses
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Lin H.-Y.;Chan W.-C.;Chen L.-J.;Lee Y.-C.;Yeh S.-I.;Niu D.-M.;Chiu P.C.;Tsai W.-H.;Wuh-Liang Hwu;Chuang C.-K.;Lin S.-P.; Lin H.-Y.; Chan W.-C.; Chen L.-J.; Lee Y.-C.; Yeh S.-I.; Niu D.-M.; Chiu P.C.; Tsai W.-H.; WUH-LIANG HWU; Chuang C.-K.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:06Z |
Long-term effects of enzyme replacement therapy for Taiwanese patients with mucopolysaccharidosis IVA
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Lin H.-Y.;Chuang C.-K.;Ke Y.-Y.;Hsu C.-C.;Chiu P.C.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Lin J.-L.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Ke Y.-Y.; Hsu C.-C.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Lin J.-L.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:05Z |
High incidence of co-existing GLA variants and stroke susceptibility
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Chien Y.-H.;Wuh-Liang Hwu; Chien Y.-H.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:05Z |
A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan
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Lee N.-C.;Chien Y.-H.;Wuh-Liang Hwu; Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:04Z |
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry
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Chabrol B.; Arnaudo F.; Cano A.; Thompson N.; Eyskens F.; Lindner M.; L?sebrink N.; Jalan A.; Sokal E.; Legros V.; Nassogne M.C.; Additional individual contributors from E-IMD; Gleich F.; Burgard P.; van der Ploeg A.T.; Summar M.L.; Chapman K.A.; Bari? I.; Lund A.M.; K?lker S.; Williams M.; H?rster F.; Jelsig A.M.; de Lonlay P.; Wijburg F.A.; Bosch A.; Freisinger P.; Posset R.; Augoustides-Savvopoulou P.; Avram P.; Deleanu C.; Baumgartner M.R.; H?berle J.; Blasco-Alonso J.; Burlina A.B.; Rubert L.; Cazorla A.G.; Saladelafont E.C.I.; Dionisi-Vici C.; Martinelli D.; Dobbelaere D.; Mention K.; Gr?newald S.; Chakrapani A.; WUH-LIANG HWU; Chien Y.-H.; Lee N.-C.; Karall D.; Scholl-B?rgi S.; Lachmann R.; De Laet C.; Matsumoto S.; de Meirleir L.; M?hlhausen C.; Schiff M.; Pe?a-Quintana L.; Djordjevic M.; Sarajlija A.; Sykut-Cegielska J.; Wisniewska A.; Leao-Teles E.; Alves S.; Vara R.; Vives-Pinera I.; Ortega D.G.; Morris A.; Zeman J.; Honzik T.; Molema F.;Gleich F.;Burgard P.;Van Der Ploeg A.T.;Summar M.L.;Chapman K.A.;Bari? I.;Lund A.M.;K?Lker S.;Williams M.;H?Rster F.;Jelsig A.M.;De Lonlay P.;Wijburg F.A.;Bosch A.;Freisinger P.;Posset R.;Augoustides-Savvopoulou P.;Avram P.;Deleanu C.;Baumgartner M.R.;H?Berle J.;Blasco-Alonso J.;Burlina A.B.;Rubert L.;Cazorla A.G.;Saladelafont E.C.I.;Dionisi-Vici C.;Martinelli D.;Dobbelaere D.;Mention K.;Gr?Newald S.;Chakrapani A.;Wuh-Liang Hwu;Chien Y.-H.;Lee N.-C.;Karall D.;Scholl-B?Rgi S.;Lachmann R.;De Laet C.;Matsumoto S.;De Meirleir L.;M?Hlhausen C.;Schiff M.;Pe?A-Quintana L.;Djordjevic M.;Sarajlija A.;Sykut-Cegielska J.;Wisniewska A.;Leao-Teles E.;Alves S.;Vara R.;Vives-Pinera I.;Ortega D.G.;Morris A.;Zeman J.;Honzik T.;Chabrol B.;Arnaudo F.;Cano A.;Thompson N.;Eyskens F.;Lindner M.;L?Sebrink N.;Jalan A.;Sokal E.;Legros V.;Nassogne M.C.;Additional Individual Contributors From E-Imd; Molema F. |
