共 28 条
[1]
[Anonymous], 2019, A Language and Environment for Statistical Computing
[2]
Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform
[J].
Bonte, Ramon
;
Bongaerts, Michiel
;
Demirdas, Serwet
;
Langendonk, Janneke G.
;
Huidekoper, Hidde H.
;
Williams, Monique
;
Onkenhout, Willem
;
Jacobs, Edwin H.
;
Blom, Henk J.
;
Ruijter, George J. G.
.
METABOLITES,
2019, 9 (12)

Bonte, Ramon
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus Univ, Med Ctr, Ctr Lysosomal & Metab Dis, Dept Clin Genet, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands Erasmus Univ, Med Ctr, Ctr Lysosomal & Metab Dis, Dept Clin Genet, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands

Bongaerts, Michiel
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus Univ, Med Ctr, Ctr Lysosomal & Metab Dis, Dept Clin Genet, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands Erasmus Univ, Med Ctr, Ctr Lysosomal & Metab Dis, Dept Clin Genet, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands

Demirdas, Serwet
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus Univ, Med Ctr, Ctr Lysosomal & Metab Dis, Dept Clin Genet, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands Erasmus Univ, Med Ctr, Ctr Lysosomal & Metab Dis, Dept Clin Genet, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands

Langendonk, Janneke G.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus Univ, Med Ctr, Ctr Lysosomal & Metab Dis, Dept Internal Med, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands Erasmus Univ, Med Ctr, Ctr Lysosomal & Metab Dis, Dept Clin Genet, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands

Huidekoper, Hidde H.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus Univ, Med Ctr, Ctr Lysosomal & Metab Dis, Dept Pediat, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands Erasmus Univ, Med Ctr, Ctr Lysosomal & Metab Dis, Dept Clin Genet, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands

Williams, Monique
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus Univ, Med Ctr, Ctr Lysosomal & Metab Dis, Dept Pediat, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands Erasmus Univ, Med Ctr, Ctr Lysosomal & Metab Dis, Dept Clin Genet, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands

Onkenhout, Willem
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus Univ, Med Ctr, Ctr Lysosomal & Metab Dis, Dept Clin Genet, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands Erasmus Univ, Med Ctr, Ctr Lysosomal & Metab Dis, Dept Clin Genet, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands

Jacobs, Edwin H.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus Univ, Med Ctr, Ctr Lysosomal & Metab Dis, Dept Clin Genet, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands Erasmus Univ, Med Ctr, Ctr Lysosomal & Metab Dis, Dept Clin Genet, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands

Blom, Henk J.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus Univ, Med Ctr, Ctr Lysosomal & Metab Dis, Dept Clin Genet, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands Erasmus Univ, Med Ctr, Ctr Lysosomal & Metab Dis, Dept Clin Genet, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands

Ruijter, George J. G.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus Univ, Med Ctr, Ctr Lysosomal & Metab Dis, Dept Clin Genet, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands Erasmus Univ, Med Ctr, Ctr Lysosomal & Metab Dis, Dept Clin Genet, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands
[3]
Recon3D enables a three-dimensional view of gene variation in human metabolism
[J].
Brunk, Elizabeth
;
Sahoo, Swagatika
;
Zielinski, Daniel C.
;
Altunkaya, Ali
;
Drager, Andreas
;
Mih, Nathan
;
Gatto, Francesco
;
Nilsson, Avlant
;
Gonzalez, German Andres Preciat
;
Aurich, Maike Kathrin
;
Prlic, Andreas
;
Sastry, Anand
;
Danielsdottir, Anna D.
;
Heinken, Almut
;
Noronha, Alberto
;
Rose, Peter W.
;
Burley, Stephen K.
;
Fleming, Ronan M. T.
;
Nielsen, Jens
;
Thiele, Ines
;
Palsson, Bernhard O.
.
NATURE BIOTECHNOLOGY,
2018, 36 (03)
:272-+

Brunk, Elizabeth
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA
Tech Univ Denmark, Novo Nordisk Fdn Ctr Biosustainabil, Lyngby, Denmark Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA

Sahoo, Swagatika
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Luxembourg, Luxembourg Ctr Syst Biomed, Campus Belval, Esch Sur Alzette, Luxembourg
Indian Inst Technol, Dept Chem Engn, Madras, Tamil Nadu, India Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA

Zielinski, Daniel C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA

Altunkaya, Ali
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, San Diego Supercomp Ctr, RCSB Prot Data Bank, La Jolla, CA 92093 USA
Arizona State Univ, Dept Comp Sci, Tempe, AZ 85281 USA Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA

Drager, Andreas
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, Ctr Bioinformat Tubingen ZBIT, Appl Bioinformat Grp, Tubingen, Germany Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA

Mih, Nathan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA

Gatto, Francesco
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA
Chalmers Univ Technol, Dept Biol & Biol Engn, Gothenburg, Sweden Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA

Nilsson, Avlant
论文数: 0 引用数: 0
h-index: 0
机构:
Chalmers Univ Technol, Dept Biol & Biol Engn, Gothenburg, Sweden Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA

Gonzalez, German Andres Preciat
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Luxembourg, Luxembourg Ctr Syst Biomed, Campus Belval, Esch Sur Alzette, Luxembourg Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA

Aurich, Maike Kathrin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Luxembourg, Luxembourg Ctr Syst Biomed, Campus Belval, Esch Sur Alzette, Luxembourg Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA

Prlic, Andreas
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, San Diego Supercomp Ctr, RCSB Prot Data Bank, La Jolla, CA 92093 USA Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA

Sastry, Anand
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA

Danielsdottir, Anna D.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Luxembourg, Luxembourg Ctr Syst Biomed, Campus Belval, Esch Sur Alzette, Luxembourg Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA

Heinken, Almut
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Luxembourg, Luxembourg Ctr Syst Biomed, Campus Belval, Esch Sur Alzette, Luxembourg Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA

Noronha, Alberto
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Luxembourg, Luxembourg Ctr Syst Biomed, Campus Belval, Esch Sur Alzette, Luxembourg Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA

Rose, Peter W.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, San Diego Supercomp Ctr, RCSB Prot Data Bank, La Jolla, CA 92093 USA Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA

Burley, Stephen K.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, San Diego Supercomp Ctr, RCSB Prot Data Bank, La Jolla, CA 92093 USA
Rutgers State Univ, Dept Chem & Chem Biol, Ctr Integrat Proteom Res, Inst Quantitat Biomed, Piscataway, NJ USA
Rutgers State Univ, Rutgers Canc Inst New Jersey, Piscataway, NJ USA Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA

Fleming, Ronan M. T.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Luxembourg, Luxembourg Ctr Syst Biomed, Campus Belval, Esch Sur Alzette, Luxembourg
Leiden Univ, Leiden Acad Ctr Drug Res, Fac Sci, Div Analyt Biosci, Leiden, Netherlands Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA

Nielsen, Jens
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Denmark, Novo Nordisk Fdn Ctr Biosustainabil, Lyngby, Denmark
Chalmers Univ Technol, Dept Biol & Biol Engn, Gothenburg, Sweden Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA

Thiele, Ines
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Luxembourg, Luxembourg Ctr Syst Biomed, Campus Belval, Esch Sur Alzette, Luxembourg Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA

Palsson, Bernhard O.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA
Tech Univ Denmark, Novo Nordisk Fdn Ctr Biosustainabil, Lyngby, Denmark
Univ Calif San Diego, Dept Pediat, La Jolla, CA 92093 USA Univ Calif San Diego, Dept Bioengn, San Diego, CA 92103 USA
[4]
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients
[J].
Coene, Karlien L. M.
;
Kluijtmans, Leo A. J.
;
van der Heeft, Ed
;
Engelke, Udo F. H.
;
de Boer, Siebolt
;
Hoegen, Brechtje
;
Kwast, Hanneke J. T.
;
van de Vorst, Maartje
;
Huigen, Marleen C. D. G.
;
Keularts, Irene M. L. W.
;
Schreuder, Michiel F.
;
van Karnebeek, Clara D. M.
;
Wortmann, Saskia B.
;
de Vries, Maaike C.
;
Janssen, Mirian C. H.
;
Gilissen, Christian
;
Engel, Jasper
;
Wevers, Ron A.
.
JOURNAL OF INHERITED METABOLIC DISEASE,
2018, 41 (03)
:337-353

Coene, Karlien L. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands

Kluijtmans, Leo A. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands

van der Heeft, Ed
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands

Engelke, Udo F. H.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands

de Boer, Siebolt
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands

Hoegen, Brechtje
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands

Kwast, Hanneke J. T.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands

van de Vorst, Maartje
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Dept Human Genet, Donders Inst Neurosci, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands

Huigen, Marleen C. D. G.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands

Keularts, Irene M. L. W.
论文数: 0 引用数: 0
h-index: 0
机构:
Maastricht Univ, Med Ctr, Lab Biochem Genet, Dept Clin Genet, Maastricht, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands

Schreuder, Michiel F.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Amalia Childrens Hosp, Dept Pediat Nephrol, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands

van Karnebeek, Clara D. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Acad Med Ctr, Emma Childrens Hosp, Dept Genet Metab Disorders, Amsterdam, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands

Wortmann, Saskia B.
论文数: 0 引用数: 0
h-index: 0
机构:
Salzburger Landesklin SALK, Dept Pediat, Salzburg, Austria
PMU, Salzburg, Austria Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands

de Vries, Maaike C.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Amalia Childrens Hosp, Dept Pediat, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands

Janssen, Mirian C. H.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Amalia Childrens Hosp, Dept Pediat, Nijmegen, Netherlands
Radboud Univ Nijmegen, Med Ctr, Dept Internal Med, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands

Gilissen, Christian
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Dept Human Genet, Donders Inst Neurosci, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands

Engel, Jasper
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Inst Mol & Mat, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands

Wevers, Ron A.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands
[5]
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders
[J].
Dillon, Oliver James
;
Lunke, Sebastian
;
Stark, Zornitza
;
Yeung, Alison
;
Thorne, Natalie
;
Gaff, Clara
;
White, Susan M.
;
Tan, Tiong Yang
.
EUROPEAN JOURNAL OF HUMAN GENETICS,
2018, 26 (05)
:644-651

Dillon, Oliver James
论文数: 0 引用数: 0
h-index: 0
机构:
Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia
Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia

Lunke, Sebastian
论文数: 0 引用数: 0
h-index: 0
机构:
Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia

Stark, Zornitza
论文数: 0 引用数: 0
h-index: 0
机构:
Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia
Melbourne Genom Hlth Alliance, Melbourne, Vic, Australia Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia

Yeung, Alison
论文数: 0 引用数: 0
h-index: 0
机构:
Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia

Thorne, Natalie
论文数: 0 引用数: 0
h-index: 0
机构:
Melbourne Genom Hlth Alliance, Melbourne, Vic, Australia Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia

Gaff, Clara
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia
Melbourne Genom Hlth Alliance, Melbourne, Vic, Australia Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia

White, Susan M.
论文数: 0 引用数: 0
h-index: 0
机构:
Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia
Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia

Tan, Tiong Yang
论文数: 0 引用数: 0
h-index: 0
机构:
Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia
Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia
[6]
NGS Technologies as a Turning Point in Rare Disease Resea rch, Diagnosis and Treatment
[J].
Fernandez-Marmiesse, Ana
;
Gouveia, Sofia
;
Couce, Maria L.
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CURRENT MEDICINAL CHEMISTRY,
2018, 25 (03)
:404-432

Fernandez-Marmiesse, Ana
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Santiago de Compostela, Hosp Clin, Dept Pediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela, Spain Univ Santiago de Compostela, Hosp Clin, Dept Pediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela, Spain

Gouveia, Sofia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Santiago de Compostela, Hosp Clin, Dept Pediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela, Spain Univ Santiago de Compostela, Hosp Clin, Dept Pediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela, Spain

论文数: 引用数:
h-index:
机构:
[7]
A proposed nosology of inborn errors of metabolism
[J].
Ferreira, Carlos R.
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van Karnebeek, Clara D. M.
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Vockley, Jerry
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Blau, Nenad
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GENETICS IN MEDICINE,
2019, 21 (01)
:102-106

Ferreira, Carlos R.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA
Childrens Natl Hlth Syst, Div Genet & Metab, Washington, DC 20010 USA NHGRI, NIH, Bethesda, MD 20892 USA

van Karnebeek, Clara D. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Acad Med Ctr, Dept Pediat, Amsterdam, Netherlands
Acad Med Ctr, Dept Clin Genet, Amsterdam, Netherlands
Univ British Columbia, Dept Pediat, Ctr Mol Med & Therapeut, Vancouver, BC, Canada NHGRI, NIH, Bethesda, MD 20892 USA

Vockley, Jerry
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pittsburgh, Sch Med, Dept Pediat, Dept Human Genet,Grad Sch Publ Hlth, Pittsburgh, PA 15261 USA NHGRI, NIH, Bethesda, MD 20892 USA

Blau, Nenad
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Dietmar Hopp Metab Ctr, Heidelberg, Germany NHGRI, NIH, Bethesda, MD 20892 USA
[8]
High burden of private mutations due to explosive human population growth and purifying selection
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Gao, Feng
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Keinan, Alon
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BMC GENOMICS,
2014, 15

Gao, Feng
论文数: 0 引用数: 0
h-index: 0
机构:
Cornell Univ, Dept Biol Stat & Computat Biol, Ithaca, NY 14853 USA Cornell Univ, Dept Biol Stat & Computat Biol, Ithaca, NY 14853 USA

论文数: 引用数:
h-index:
机构:
[9]
Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review
[J].
Graham, Emma
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Lee, Jessica
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Price, Magda
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Tarailo-Graovac, Maja
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Matthews, Allison
;
Engelke, Udo
;
Tang, Jeffrey
;
Kluijtmans, Leo A. J.
;
Wevers, Ron A.
;
Wasserman, Wyeth W.
;
van Karnebeek, Clara D. M.
;
Mostafavi, Sara
.
JOURNAL OF INHERITED METABOLIC DISEASE,
2018, 41 (03)
:435-445

Graham, Emma
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, Dept Bioinformat, Vancouver, BC, Canada
Univ British Columbia, BC Childrens Hosp Res Inst, Ctr Mol Med & Therapeut, Vancouver, BC, Canada Univ British Columbia, Dept Bioinformat, Vancouver, BC, Canada

Lee, Jessica
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, BC Childrens Hosp Res Inst, Ctr Mol Med & Therapeut, Vancouver, BC, Canada
Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada Univ British Columbia, Dept Bioinformat, Vancouver, BC, Canada

Price, Magda
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, BC Childrens Hosp Res Inst, Ctr Mol Med & Therapeut, Vancouver, BC, Canada Univ British Columbia, Dept Bioinformat, Vancouver, BC, Canada

Tarailo-Graovac, Maja
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calgary, Cumming Sch Med, Dept Biochem & Mol Biol, Calgary, AB, Canada
Univ Calgary, Cumming Sch Med, Dept Med Genet, Calgary, AB, Canada
Univ Calgary, Alberta Childrens Hosp Res Inst, Calgary, AB, Canada Univ British Columbia, Dept Bioinformat, Vancouver, BC, Canada

Matthews, Allison
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机构:
BC Childrens Hosp Res Inst, Dept Pediat, Vancouver, BC, Canada Univ British Columbia, Dept Bioinformat, Vancouver, BC, Canada

Engelke, Udo
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h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Lab Med, Translat Metab Lab, Nijmegen, Netherlands Univ British Columbia, Dept Bioinformat, Vancouver, BC, Canada

Tang, Jeffrey
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机构:
Univ British Columbia, BC Childrens Hosp Res Inst, Ctr Mol Med & Therapeut, Vancouver, BC, Canada Univ British Columbia, Dept Bioinformat, Vancouver, BC, Canada

Kluijtmans, Leo A. J.
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Radboud Univ Nijmegen, Med Ctr, Dept Lab Med, Translat Metab Lab, Nijmegen, Netherlands Univ British Columbia, Dept Bioinformat, Vancouver, BC, Canada

Wevers, Ron A.
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机构:
Radboud Univ Nijmegen, Med Ctr, Dept Lab Med, Translat Metab Lab, Nijmegen, Netherlands Univ British Columbia, Dept Bioinformat, Vancouver, BC, Canada

Wasserman, Wyeth W.
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机构:
Univ British Columbia, BC Childrens Hosp Res Inst, Ctr Mol Med & Therapeut, Vancouver, BC, Canada
Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada Univ British Columbia, Dept Bioinformat, Vancouver, BC, Canada

van Karnebeek, Clara D. M.
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Univ British Columbia, BC Childrens Hosp Res Inst, Ctr Mol Med & Therapeut, Vancouver, BC, Canada
BC Childrens Hosp Res Inst, Dept Pediat, Vancouver, BC, Canada
Emma Childrens Hosp, Acad Med Ctr, Dept Pediat, Amsterdam, Netherlands
Emma Childrens Hosp, Acad Med Ctr, Dept Clin Genet, Amsterdam, Netherlands Univ British Columbia, Dept Bioinformat, Vancouver, BC, Canada

Mostafavi, Sara
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h-index: 0
机构:
Univ British Columbia, BC Childrens Hosp Res Inst, Ctr Mol Med & Therapeut, Vancouver, BC, Canada
Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada
Univ British Columbia, Dept Stat, Vancouver, BC, Canada Univ British Columbia, Dept Bioinformat, Vancouver, BC, Canada
[10]
Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm
[J].
Haijes, Hanneke A.
;
van der Ham, Maria
;
Prinsen, Hubertus C. M. T.
;
Broeks, Melissa H.
;
van Hasselt, Peter M.
;
de Sain-van der Velden, Monique G. M.
;
Verhoeven-Duif, Nanda M.
;
Jans, Judith J. M.
.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES,
2020, 21 (03)

Haijes, Hanneke A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utrecht, Univ Med Ctr Utrecht, Dept Genet, Sect Metab Diagnost, Lundlaan 6, NL-3584 EA Utrecht, Netherlands
Univ Utrecht, Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Sect Metab Diagnost,Dept Child Hlth, Lundlaan 6, NL-3584 EA Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, Dept Genet, Sect Metab Diagnost, Lundlaan 6, NL-3584 EA Utrecht, Netherlands

van der Ham, Maria
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utrecht, Univ Med Ctr Utrecht, Dept Genet, Sect Metab Diagnost, Lundlaan 6, NL-3584 EA Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, Dept Genet, Sect Metab Diagnost, Lundlaan 6, NL-3584 EA Utrecht, Netherlands

Prinsen, Hubertus C. M. T.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utrecht, Univ Med Ctr Utrecht, Dept Genet, Sect Metab Diagnost, Lundlaan 6, NL-3584 EA Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, Dept Genet, Sect Metab Diagnost, Lundlaan 6, NL-3584 EA Utrecht, Netherlands

Broeks, Melissa H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utrecht, Univ Med Ctr Utrecht, Dept Genet, Sect Metab Diagnost, Lundlaan 6, NL-3584 EA Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, Dept Genet, Sect Metab Diagnost, Lundlaan 6, NL-3584 EA Utrecht, Netherlands

van Hasselt, Peter M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utrecht, Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Sect Metab Diagnost,Dept Child Hlth, Lundlaan 6, NL-3584 EA Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, Dept Genet, Sect Metab Diagnost, Lundlaan 6, NL-3584 EA Utrecht, Netherlands

de Sain-van der Velden, Monique G. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utrecht, Univ Med Ctr Utrecht, Dept Genet, Sect Metab Diagnost, Lundlaan 6, NL-3584 EA Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, Dept Genet, Sect Metab Diagnost, Lundlaan 6, NL-3584 EA Utrecht, Netherlands

Verhoeven-Duif, Nanda M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utrecht, Univ Med Ctr Utrecht, Dept Genet, Sect Metab Diagnost, Lundlaan 6, NL-3584 EA Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, Dept Genet, Sect Metab Diagnost, Lundlaan 6, NL-3584 EA Utrecht, Netherlands

Jans, Judith J. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utrecht, Univ Med Ctr Utrecht, Dept Genet, Sect Metab Diagnost, Lundlaan 6, NL-3584 EA Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, Dept Genet, Sect Metab Diagnost, Lundlaan 6, NL-3584 EA Utrecht, Netherlands