| 臺大學術典藏 |
2020-03-04T07:45:10Z |
Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (Ethnic Chinese) cohort of familial and early-onset parkinsonism
|
CHIN-HSIEN LIN; Hwu W.-L.; Chiang S.-C.; Tai C.-H.; Wu R.-M. |
| 臺大學術典藏 |
2020-03-04T05:35:18Z |
DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients
|
Wang C.K.; Wu Y.R.; Hwu W.L.; Chen C.M.; Ro L.S.; Chen S.T.; Gwinn-Hardy K.; Yang C.C.; Wu R.M.; Chen T.F.; Wang H.C.; Chao M.C.; MING-JANG CHIU; Lu C.J.; Lee-Chen G.J. |
| 臺大學術典藏 |
2020-03-04T05:34:56Z |
Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's disease
|
Huang A.-C.; Chien Y.-H.; Hwu W.-L.; MING-JANG CHIU; Chiu Y.-N.; Lee N.-C.; Yang S.-Y.; Chieh J.-J.; Huang P.-T.; Chang L.-M. |
| 臺大學術典藏 |
2020-03-04T05:34:46Z |
Composite Scores of Plasma Tau and �]-Amyloids Correlate with Dementia in down Syndrome
|
Fang W.-Q.; Hwu W.-L.; Chien Y.-H.; Yang S.-Y.; Chieh J.-J.; Chang L.-M.; Huang A.-C.; Lee N.-C.; MING-JANG CHIU |
| 臺大學術典藏 |
2020-03-03T03:06:54Z |
Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment
|
Peng S.S.-F.;Wen-Yih Tseng;Chien Y.-H.;Hwu W.-L.;Liu H.-M.; Peng S.S.-F.; WEN-YIH TSENG; Chien Y.-H.; Hwu W.-L.; Liu H.-M. |
| 臺大學術典藏 |
2020-03-03T03:06:22Z |
Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency
|
Tseng C.-H.; Chien Y.-H.; Lee N.-C.; Hsu Y.-C.; Peng S.-F.; WEN-YIH TSENG; Hwu W.-L. |
| 臺大學術典藏 |
2020-03-03T02:33:35Z |
Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.
|
MING-JEN LEE; Su Y.N.; You H.L.; Chiou S.C.; Lin L.C.; Yang C.C.; Lee W.C.; Hwu W.L.; Hsieh F.J.; Stephenson D.A.; Yu C.L. |
| 臺大學術典藏 |
2020-03-03T02:33:35Z |
Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C
|
Yang C.-C.; Su Y.-N.; Chiou P.-C.; Fietz M.J.; Yu C.-L.; Hwu W.-L.; MING-JEN LEE |
| 臺大學術典藏 |
2020-03-03T01:14:51Z |
DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients
|
Wang C.K; Wu Y.R; Hwu W.L; Chen C.M; Ro L.S; Chen S.T; Gwinn-Hardy K; Yang C.C; Wu R.M; TA-FU CHEN; Wang H.C; Chao M.C; Chiu M.J; Lu C.J; Lee-Chen G.J. |
| 臺大學術典藏 |
2020-02-27T01:50:09Z |
Human pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification
|
Huang H.-P.;Chen P.-H.;Hwu W.-L.;Chuang C.-Y.;Chien Y.-H.;Stone L.;Chung-Liang Chien;Li L.-T.;Chiang S.-C.;Chen H.-F.;Ho H.-N.;Chen C.-H.;Kuo H.-C.; Huang H.-P.; Chen P.-H.; Hwu W.-L.; Chuang C.-Y.; Chien Y.-H.; Stone L.; CHUNG-LIANG CHIEN; Li L.-T.; Chiang S.-C.; Chen H.-F.; Ho H.-N.; Chen C.-H.; Kuo H.-C. |
| 臺大學術典藏 |
2020-02-27T01:50:09Z |
Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification
|
Huang H.-P. ;Chen P.-H. ;Hwu W.-L. ;Chuang C.-Y. ;Chien Y.-H. ;Stone L. ;Chung-Liang Chien ;Li L.-T. ;Chiang S.-C. ;Chen H.-F. ;Ho H.-N. ;Chen C.-H. ;Kuo H.-C.; Huang H.-P.; Chen P.-H.; Hwu W.-L.; Chuang C.-Y.; Chien Y.-H.; Stone L.; CHUNG-LIANG CHIEN; Li L.-T.; Chiang S.-C.; Chen H.-F.; Ho H.-N.; Chen C.-H.; Kuo H.-C. |
| 臺大學術典藏 |
2020-02-26T07:30:05Z |
Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiency
|
Ho S.-Y; Chien Y.-H; Tsai L.-K; Muramatsu S.-I; Hwu W.-L; HORNG-HUEI LIOU; Lee N.-C. |
| 臺大學術典藏 |
2020-02-25T08:01:46Z |
Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and Parkin gene mutations
|
Ruey-Meei Wu;Shan D.-E;Sun C.-M;Liu R.-S;Hwu W.-L;Tai C.-H;Hussey J;West A;Gwinn-Hardy K;Hardy J;Chen J;Farrer M;Lincoln S.; RUEY-MEEI WU; Shan D.-E; Sun C.-M; Liu R.-S; Hwu W.-L; Tai C.-H; Hussey J; West A; Gwinn-Hardy K; Hardy J; Chen J; Farrer M; Lincoln S. |
| 臺大學術典藏 |
2020-02-25T08:01:45Z |
DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients
|
Wang C.K;Wu Y.R;Hwu W.L;Chen C.M;Ro L.S;Chen S.T;Gwinn-Hardy K;Yang C.C;Ruey-Meei Wu;Chen T.F;Wang H.C;Chao M.C;Chiu M.J;Lu C.J;Lee-Chen G.J.; Wang C.K; Wu Y.R; Hwu W.L; Chen C.M; Ro L.S; Chen S.T; Gwinn-Hardy K; Yang C.C; RUEY-MEEI WU; Chen T.F; Wang H.C; Chao M.C; Chiu M.J; Lu C.J; Lee-Chen G.J. |
| 臺大學術典藏 |
2020-02-25T08:01:44Z |
Parkin mutations and early-onset parkinsonism in a Taiwanese cohort
|
Ruey-Meei Wu;Bounds R;Lincoln S;Hulihan M;Lin C.-H;Hwu W.-L;Chen J;Gwinn-Hardy K;Farrer M.; RUEY-MEEI WU; Bounds R; Lincoln S; Hulihan M; Lin C.-H; Hwu W.-L; Chen J; Gwinn-Hardy K; Farrer M. |
| 臺大學術典藏 |
2020-02-25T08:01:42Z |
Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (Ethnic Chinese) cohort of familial and early-onset parkinsonism
|
Lin C.-H; Hwu W.-L; Chiang S.-C; Tai C.-H; RUEY-MEEI WU |
| 臺大學術典藏 |
2020-02-25T08:01:29Z |
Gene therapy for aromatic L-amino acid decarboxylase deficiency
|
Hwu W.-L; Muramatsu S.-I; Tseng S.-H; Tzen K.-Y; Lee N.-C; Chien Y.-H; Snyder R.O; Byrne B.J; Tai C.-H; RUEY-MEEI WU |
| 臺大學術典藏 |
2020-02-24T01:33:42Z |
Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
|
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.;Hwu W.-L.;Lee N.-C.;Lin S.-P.;Liu C.-S.;Rey-Heng Hu;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.; Hwu W.-L.; Lee N.-C.; Lin S.-P.; Liu C.-S.; REY-HENG HU; Ho M.-C.; Niu D.-M. |
| 臺大學術典藏 |
2020-02-19T09:34:00Z |
Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism
|
Huang H.-P.;Chien Y.-H.;Huang L.-M.;Ni Y.-H.;Chang M.-H.;Ming-Chih Ho;Lee P.-H.;Hwu W.-L.; Huang H.-P.; Chien Y.-H.; Huang L.-M.; Ni Y.-H.; Chang M.-H.; MING-CHIH HO; Lee P.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2020-02-19T09:33:54Z |
Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation
|
Chen P.W.; Hwu W.L.; MING-CHIH HO; Lee N.C.; Chien Y.H.; Ni Y.H.; Lee P.H. |
| 臺大學術典藏 |
2020-02-19T09:33:39Z |
Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
|
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.;Hwu W.-L.;Lee N.-C.;Lin S.-P.;Liu C.-S.;Hu R.-H.;Ming-Chih Ho;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.; Hwu W.-L.; Lee N.-C.; Lin S.-P.; Liu C.-S.; Hu R.-H.; MING-CHIH HO; Niu D.-M. |
| 臺大學術典藏 |
2020-02-17T08:07:05Z |
Experimental treatment of bilateral fetal chylothorax using in-utero pleurodesis
|
YU-SHIH YANG; Ma G.-C; Shih J.-C; Chen C.-P; Chou C.-H; Yeh K.-T; Kuo S.-J; Chen T.-H; Hwu W.-L; Lee T.-H; Chen M. |
| 臺大學術典藏 |
2020-02-17T08:07:04Z |
Genome-wide gene expression analysis implicates the immune response and lymphangiogenesis in the pathogenesis of fetal chylothorax
|
Yeang C.-H; Ma G.-C; Shih J.-C; YU-SHIH YANG; Chen C.-P; Chang S.-P; Wu S.-H; Liu C.-S; Kuo S.-J; Chou H.-C; Hwu W.-L; Cameron A.D; Ginsberg N.A; Lin Y.-S; Chen M. |
| 臺大學術典藏 |
2020-02-17T07:43:36Z |
Human pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification
|
Huang H.-P; Chen P.-H; Hwu W.-L; Chuang C.-Y; Chien Y.-H; Stone L; Chien C.-L; Li L.-T; Chiang S.-C; Chen H.-F; HONG-NERNG HO; Chen C.-H; Kuo H.-C. |
| 臺大學術典藏 |
2020-02-03T08:15:25Z |
Erratum: Molecular genetic study of Pompe disease in Chinese patients in Taiwan (Human Mutation (1999) 13 (380-384))
|
Ko T.-M.;Hwu W.-L.;Lin Y.-W.;Tseng L.-H.;Hsiao-Lin Hwa;Wang T.-R.;Chuang S.- M.;Hayashi K.; Ko T.-M.; Hwu W.-L.; Lin Y.-W.; Tseng L.-H.; HSIAO-LIN HWA; Wang T.-R.; Chuang S.- M.; Hayashi K. |
| 臺大學術典藏 |
2020-02-03T08:15:24Z |
Molecular genetic study of Pompe disease in Chinese patients in Taiwan
|
Ko T.-M.; Hwu W.-L.; Lin Y.-W.; Tseng L.-H.; HSIAO-LIN HWA; Wang T.-R.; Chuang S.-M.; Ko T.-M.;Hwu W.-L.;Lin Y.-W.;Tseng L.-H.;Hsiao-Lin Hwa;Wang T.-R.;Chuang S.-M. |
| 臺大學術典藏 |
2020-02-03T08:15:05Z |
Analysis of nondegraded and degraded DNA mixtures of close relatives using massively parallel sequencing
|
Li S.-F.; Hwu W.-L.; Su C.-W.; Hsiao-Lin Hwa;Wu M.-Y.;Lee J.C.-I.;Yin H.-I.;Hsu P.-M.;Li S.-F.;Hwu W.-L.;Su C.-W.; HSIAO-LIN HWA; Wu M.-Y.; Lee J.C.-I.; Yin H.-I.; Hsu P.-M. |
| 臺大學術典藏 |
2020 |
Analysis of nondegraded and degraded DNA mixtures of close relatives using massively parallel sequencing
|
Li S.-F.; Hwu W.-L.; Su C.-W.; Hsu P.-M.; Yin H.-I.; JAMES CHUN-I LEE; Wu M.-Y.; Hwa H.-L.; Hwa H.-L.;Wu M.-Y.;James Chun-I Lee;Yin H.-I.;Hsu P.-M.;Li S.-F.;Hwu W.-L.;Su C.-W. |
| 臺大學術典藏 |
2020 |
Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohort
|
CHIN-HSIEN LIN; Hwu W.-L.; Chien Y.-H.; Lee N.-C.; Lee B.-C.; Chen S.-J.; Chen S.-J.;Lee B.-C.;Lee N.-C.;Chien Y.-H.;Hwu W.-L.;Chin-Hsien Lin |
| 臺大學術典藏 |
2020 |
Complications of erythropoietin in navigated brain gene therapy: A case report
|
Tseng S.-H.;Chun-Hwei Tai;Hwu W.-L.; Tseng S.-H.; CHUN-HWEI TAI; Hwu W.-L. |
| 臺大學術典藏 |
2020 |
The timely needs for infantile onset pompe disease newborn screening—practice in Taiwan
|
Chiang S.-C.; YIN-HSIU CHIEN; Chang K.-L.; Lee N.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2020 |
Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical center
|
Liu M.-Y.; Lee C.-T.; Lee N.-C.; Tung Y.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Tsai W.-Y. |
| 臺大學術典藏 |
2020 |
CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening
|
YIN-HSIU CHIEN; Lee N.-C.; Lee W.-T.; Weng W.-C.; Hsu Y.-K.; Chang F.-M.; Lin C.-Y.; Hwu W.-L. |
| 臺大學術典藏 |
2020 |
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan
|
Chuang C.-K.; Chien Y.-H.; Lee N.-C.; Hwu W.-L.; Lin H.-Y.; Tan L.T.H.-C.; Lee C.-L.; Lee C.-L.;Tan L.T.H.-C.;Lin H.-Y.;Hwu W.-L.;Lee N.-C.;Chien Y.-H.;Chuang C.-K.;Mei-Hwan Wu;Wang J.-K.;Chu S.-Y.;Lin J.-L.;Lo F.-S.;Su P.-H.;Hsu C.-C.;Ko Y.-Y.;Chen M.-R.;Chiu H.-C.;Lin S.-P.; MEI-HWAN WU; Wang J.-K.; Chu S.-Y.; Lin J.-L.; Lo F.-S.; Su P.-H.; Hsu C.-C.; Ko Y.-Y.; Chen M.-R.; Chiu H.-C.; Lin S.-P. |
| 臺大學術典藏 |
2020 |
Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical center
|
Lee C.-T.; Liu M.-Y.; Liu M.-Y.;Lee C.-T.;Lee N.-C.;Yi-Ching Tung;Chien Y.-H.;Hwu W.-L.;Tsai W.-Y.; Lee N.-C.; YI-CHING TUNG; Chien Y.-H.; Hwu W.-L.; Tsai W.-Y. |
| 臺大學術典藏 |
2020 |
Development of newborn screening for pompe disease
|
YIN-HSIU CHIEN; Hwu W.-L. |
| 臺大學術典藏 |
2020 |
CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening
|
Lin C.-Y.; Chang F.-M.; Hsu Y.-K.; WEN-CHIN WENG; Chien Y.-H.; Lee N.-C.; Hwu W.-L.; Lee W.-T. |
| 國立成功大學 |
2020 |
Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences
|
Chien, Y.-H.;Tsai, W.-H.;Chang, Chang C.-L.;Chiu, P.-C.;Chou, Y.-Y.;Tsai, F.-J.;Wong, S.-L.;Lee, N.-C.;Hwu, W.-L. |
| 國立成功大學 |
2020 |
De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome
|
Kao, H.-J.;Chiang, H.-L.;Chen, H.-H.;Fan, P.-C.;Tu, Y.-F.;Chou, Y.-Y.;Hwu, W.-L.;Lin, C.-L.;Kwok, P.-Y.;Lee, N.-C. |
| 臺大學術典藏 |
2019-12-05T06:27:01Z |
Spontaneous chylothorax in a case of cardio-facio-cutaneous syndrome
|
Chan P.-C.;Hsien-Ching Chiu;Hwu W.-L.; Chan P.-C.; HSIEN-CHING CHIU; Hwu W.-L. |
| 臺大學術典藏 |
2019-11-29T03:04:27Z |
Deletion of 11q24.2-qter with agenesis of unilateral internal carotid artery and total anomalous pulmonary venous return [1]
|
Wu C.-H.;Hwu W.-L.;Wang J.-K.;Young C.;Peng S.S.-F.;Meng-Fai Kuo; Wu C.-H.; Hwu W.-L.; Wang J.-K.; Young C.; Peng S.S.-F.; MENG-FAI KUO |
| 臺大學術典藏 |
2019-11-27T06:54:13Z |
Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia
|
Juang J.-M.J.;Shun C.-T.;Yih-Sharng Chen;Hwu W.-L.;Lee N.-C.;Tsai W.-H.;Chen N.-Q.;Chien Y.-H.; Juang J.-M.J.; Shun C.-T.; YIH-SHARNG CHEN; Hwu W.-L.; Lee N.-C.; Tsai W.-H.; Chen N.-Q.; Chien Y.-H. |
| 臺大學術典藏 |
2019 |
Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population
|
Chien Y.-H.; Hwu W.-L.; CHIN-HSIEN LIN; Lee N.-C.; Chen S.-J.; Chen S.-J.;Lee N.-C.;Chien Y.-H.;Hwu W.-L.;Chin-Hsien Lin |
| 臺大學術典藏 |
2019 |
Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?
|
En-Ting Wu;Hwu W.-L.;Chien Y.-H.;Hsu C.;Chen T.-F.;Chen N.-Q.;Chou H.-C.;Tsao P.-N.;Fan P.-C.;Tsai I.-J.;Lin S.-P.;Hsieh W.-S.;Chang T.-M.;Chen C.-N.;Lee C.-H.;Chou Y.-Y.;Chiu P.-C.;Tsai W.-H.;Hsiung H.-C.;Lai F.;Lee N.-C.; EN-TING WU; Hwu W.-L.; Chien Y.-H.; Hsu C.; Chen T.-F.; Chen N.-Q.; Chou H.-C.; Tsao P.-N.; Fan P.-C.; Tsai I.-J.; Lin S.-P.; Hsieh W.-S.; Chang T.-M.; Chen C.-N.; Lee C.-H.; Chou Y.-Y.; Chiu P.-C.; Tsai W.-H.; Hsiung H.-C.; Lai F.; Lee N.-C. |
| 臺大學術典藏 |
2019 |
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
|
Pe?a-Quintana L.; Schiff M.; M?hlhausen C.; Matsumoto S.; de Meirleir L.; De Laet C.; Lachmann R.; Scholl-B?rgi S.; Karall D.; Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Chakrapani A.; Gr?newald S.; Mention K.; Dobbelaere D.; Martinelli D.; Dionisi-Vici C.; Saladelafont E.C.I.; 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.; 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 |
| 臺大學術典藏 |
2019 |
Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population
|
Lee N.-C.; Chen S.-J.; YIN-HSIU CHIEN; Hwu W.-L.; Lin C.-H. |
| 臺大學術典藏 |
2019 |
Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
|
Niu D.-M.; Ho M.-C.; Hu R.-H.; Liu C.-S.; Lin S.-P.; Lee N.-C.; Hwu W.-L.; Yang C.-F.; Lin N.-C.; Chiang C.-C.; Chu T.-H.; YIN-HSIU CHIEN; Lin H.-Y.; Liao H.-C.; Ho H.-J.; Lai C.-J. |
| 臺大學術典藏 |
2019 |
Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency
|
Yu H.-H.; Hu T.-C.; Lee N.-C.; YIN-HSIU CHIEN; Yang Y.-H.; Hwu W.-L.; Chiang B.-L. |
| 臺大學術典藏 |
2019 |
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
|
de Meirleir L.; Matsumoto S.; De Laet C.; Scholl-B?rgi S.; Karall D.; Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Chakrapani A.; Gr?newald S.; Mention K.; Dobbelaere D.; Martinelli D.; Dionisi-Vici C.; Saladelafont E.C.I.; Cazorla A.G.; 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.; Additional individual contributors from E-IMD; 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. |
| 臺大學術典藏 |
2019 |
Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs
|
Hsu R.-H.; Hwu W.-L.; Chen M.; Chung I.-F.; Peng S.S.-F.; Chen C.-Y.; Cheng W.-C.; YIN-HSIU CHIEN; Lee N.-C. |
