共 24 条
[1]
Akiyama T, 2014, JIMD REP, V12, P65, DOI 10.1007/8904_2013_245
[2]
Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts
[J].
Almeida, L. S.
;
Rosenberg, E. H.
;
Martinez-Munoz, C.
;
Verhoeven, N. M.
;
Vilarinho, L.
;
Jakobs, C.
;
Salomons, G. S.
.
MOLECULAR GENETICS AND METABOLISM,
2006, 89 (04)
:392-394

Almeida, L. S.
论文数: 0 引用数: 0
h-index: 0
机构:
VU Univ, Med Ctr, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands VU Univ, Med Ctr, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands

Rosenberg, E. H.
论文数: 0 引用数: 0
h-index: 0
机构:
VU Univ, Med Ctr, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands VU Univ, Med Ctr, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands

Martinez-Munoz, C.
论文数: 0 引用数: 0
h-index: 0
机构:
VU Univ, Med Ctr, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands VU Univ, Med Ctr, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands

Verhoeven, N. M.
论文数: 0 引用数: 0
h-index: 0
机构:
VU Univ, Med Ctr, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands VU Univ, Med Ctr, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands

Vilarinho, L.
论文数: 0 引用数: 0
h-index: 0
机构:
VU Univ, Med Ctr, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands VU Univ, Med Ctr, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands

Jakobs, C.
论文数: 0 引用数: 0
h-index: 0
机构:
VU Univ, Med Ctr, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands VU Univ, Med Ctr, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands

Salomons, G. S.
论文数: 0 引用数: 0
h-index: 0
机构:
VU Univ, Med Ctr, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands VU Univ, Med Ctr, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands
[3]
Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database
[J].
Betsalel, Ofir T.
;
Rosenberg, Efraim H.
;
Almeida, Ligia S.
;
Kleefstra, Tjitske
;
Schwartz, Charles E.
;
Valayannopoulos, Vassili
;
Abdul-Rahman, Omar
;
Poplawski, Nicola
;
Vilarinho, Laura
;
Wolf, Philipp
;
den Dunnen, Johan T.
;
Jakobs, Cornelis
;
Salomons, Gajja S.
.
EUROPEAN JOURNAL OF HUMAN GENETICS,
2011, 19 (01)
:56-63

Betsalel, Ofir T.
论文数: 0 引用数: 0
h-index: 0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands

论文数: 引用数:
h-index:
机构:

Almeida, Ligia S.
论文数: 0 引用数: 0
h-index: 0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
INSA, Natl Inst Hlth, Ctr Med Genet, Oporto, Portugal Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands

Kleefstra, Tjitske
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands

Schwartz, Charles E.
论文数: 0 引用数: 0
h-index: 0
机构:
Greenwood Genet Ctr, Greenwood, SC 29646 USA Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands

Valayannopoulos, Vassili
论文数: 0 引用数: 0
h-index: 0
机构:
Necker Enfants Malades Hosp, Dept Metab Disorders, Paris, France Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands

Abdul-Rahman, Omar
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Mississippi, Med Ctr, Dept Pediat, Jackson, MS 39216 USA Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands

Poplawski, Nicola
论文数: 0 引用数: 0
h-index: 0
机构:
Womens & Childrens Hosp, S Australian Clin Genet Serv, Adelaide, SA, Australia Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands

Vilarinho, Laura
论文数: 0 引用数: 0
h-index: 0
机构:
INSA, Natl Inst Hlth, Ctr Med Genet, Oporto, Portugal Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands

Wolf, Philipp
论文数: 0 引用数: 0
h-index: 0
机构:
DRK Children Clin Siegen, Dept Neuropediat, Siegen, Germany Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands

den Dunnen, Johan T.
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Dept Human & Clin Genet, Leiden, Netherlands Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands

Jakobs, Cornelis
论文数: 0 引用数: 0
h-index: 0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands

Salomons, Gajja S.
论文数: 0 引用数: 0
h-index: 0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
[4]
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms
[J].
Cheillan, David
;
Curt, Marie Joncquel-Chevalier
;
Briand, Gilbert
;
Salomons, Gajja S.
;
Mention-Mulliez, Karine
;
Dobbelaere, Dries
;
Cuisset, Jean-Marie
;
Lion-Francois, Laurence
;
Portes, Vincent Des
;
Chabli, Allel
;
Valayannopoulos, Vassili
;
Benoist, Jean-Francois
;
Pinard, Jean-Marc
;
Simard, Gilles
;
Douay, Olivier
;
Deiva, Kumaran
;
Afenjar, Alexandra
;
Heron, Delphine
;
Rivier, Francois
;
Chabrol, Brigitte
;
Prieur, Fabienne
;
Cartault, Francois
;
Pitelet, Gaelle
;
Goldenberg, Alice
;
Bekri, Soumeya
;
Gerard, Marion
;
Delorme, Richard
;
Tardieu, Marc
;
Porchet, Nicole
;
Vianey-Saban, Christine
;
Vamecq, Joseph
.
ORPHANET JOURNAL OF RARE DISEASES,
2012, 7

Cheillan, David
论文数: 0 引用数: 0
h-index: 0
机构:
Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Curt, Marie Joncquel-Chevalier
论文数: 0 引用数: 0
h-index: 0
机构:
CHRU Lille, CBP Pierre Marie Degand, Lab Hormonol Metab Nutr & Oncol HMNO, Dept Biochim & Biol Mol, F-59037 Lille, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Briand, Gilbert
论文数: 0 引用数: 0
h-index: 0
机构:
CHRU Lille, CBP Pierre Marie Degand, Lab Hormonol Metab Nutr & Oncol HMNO, Dept Biochim & Biol Mol, F-59037 Lille, France
Univ Lille 2, Mass Spectrometry Applicat Lab, F-59045 Lille, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Salomons, Gajja S.
论文数: 0 引用数: 0
h-index: 0
机构:
Vrije Univ Amsterdam, Med Ctr Amsterdam, Dept Clin Chem, Metabol Unit, Amsterdam, Netherlands Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Mention-Mulliez, Karine
论文数: 0 引用数: 0
h-index: 0
机构:
CHRU Lille, Hop Jeanne Flandres, Ctr Reference Malad Hereditaires Metab, F-59037 Lille, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Dobbelaere, Dries
论文数: 0 引用数: 0
h-index: 0
机构:
CHRU Lille, Hop Jeanne Flandres, Ctr Reference Malad Hereditaires Metab, F-59037 Lille, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Cuisset, Jean-Marie
论文数: 0 引用数: 0
h-index: 0
机构:
CHRU Lille, Hop Roger Salengro, Serv Neurol Infantile, F-59037 Lille, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Lion-Francois, Laurence
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Lyon GH Est Hop Femme Mere Enfant, Serv Neurol Pediat, F-69677 Bron, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Portes, Vincent Des
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Lyon GH Est Hop Femme Mere Enfant, Serv Neurol Pediat, F-69677 Bron, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Chabli, Allel
论文数: 0 引用数: 0
h-index: 0
机构:
Necker Enfants Malades Hosp, Lab Biochem, F-75015 Paris, France
Univ Paris 05, F-75015 Paris, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Valayannopoulos, Vassili
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, F-75015 Paris, France
Hop Necker Enfants Malad, Ctr Reference Malad Hereditaires Metab, F-75015 Paris, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Benoist, Jean-Francois
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Hop Robert Debre, Dept Biochim Hormonol, F-75019 Paris, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Pinard, Jean-Marc
论文数: 0 引用数: 0
h-index: 0
机构:
Paris IdF Ouest Univ, Hop Raymond Poincare, Unite Neurol Pediat, Dept Pediat, Paris, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Simard, Gilles
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Angers, Lab Biochim & Biol Mol, F-49033 Angers, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Douay, Olivier
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Angers, Lab Biochim & Biol Mol, F-49033 Angers, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Deiva, Kumaran
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Bicetre, Serv Neuropediat, F-94275 Le Kremlin Bicetre, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Afenjar, Alexandra
论文数: 0 引用数: 0
h-index: 0
机构:
Groupement Hosp Univ Est, Hop Armand Trousseau, Serv Neuropediat, F-75012 Paris, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Heron, Delphine
论文数: 0 引用数: 0
h-index: 0
机构:
Grp Hosp Pitie Salpetriere, UMR S975, Ctr Reference Deficiences Intellectuelles Cause R, Unite Fonctionnelle Genet Med AP HP, F-75013 Paris, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Rivier, Francois
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montpellier 1 & 2, CHRU Montpellier, F-34295 Montpellier 5, France
Univ Montpellier 1 & 2, Inserm U1046, F-34295 Montpellier 5, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Chabrol, Brigitte
论文数: 0 引用数: 0
h-index: 0
机构:
AP Hop Timone, Serv Neuropediat, F-13385 Marseille, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Prieur, Fabienne
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Etienne Hop Nord, Serv Genet, F-42055 St Etienne 2, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Cartault, Francois
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Felix Guyon St Denis Bellep, Serv Genet, F-97405 St Denis, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Pitelet, Gaelle
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Archet 2, Serv Neuropediat, F-06202 Nice 3, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Goldenberg, Alice
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Ch Nicolle, Serv Genet Med, F-76031 Rouen, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

论文数: 引用数:
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Gerard, Marion
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Clemenceau, Serv Genet, F-14033 Caen, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Delorme, Richard
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Hop Robert Debre, Serv Pedopsychiat, F-75019 Paris, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Tardieu, Marc
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Bicetre, Serv Neuropediat, F-94275 Le Kremlin Bicetre, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Porchet, Nicole
论文数: 0 引用数: 0
h-index: 0
机构:
CHRU Lille, CBP Pierre Marie Degand, Lab Hormonol Metab Nutr & Oncol HMNO, Dept Biochim & Biol Mol, F-59037 Lille, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Vianey-Saban, Christine
论文数: 0 引用数: 0
h-index: 0
机构:
Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France

Vamecq, Joseph
论文数: 0 引用数: 0
h-index: 0
机构:
CHRU Lille, CBP Pierre Marie Degand, Lab Hormonol Metab Nutr & Oncol HMNO, Dept Biochim & Biol Mol, F-59037 Lille, France
CHRU Lille, CBP Pierre Marie Degand, HMNO, Inserm,Lab Externe,Dept Prof Nicole, F-59037 Lille, France Groupement Hosp Est, Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neontal, F-69677 Bron, France
[5]
Performance comparison of exome DNA sequencing technologies
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Clark, Michael J.
;
Chen, Rui
;
Lam, Hugo Y. K.
;
Karczewski, Konrad J.
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Chen, Rong
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Euskirchen, Ghia
;
Butte, Atul J.
;
Snyder, Michael
.
NATURE BIOTECHNOLOGY,
2011, 29 (10)
:908-U206

Clark, Michael J.
论文数: 0 引用数: 0
h-index: 0
机构:
Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA

Chen, Rui
论文数: 0 引用数: 0
h-index: 0
机构:
Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA

Lam, Hugo Y. K.
论文数: 0 引用数: 0
h-index: 0
机构:
Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA

Karczewski, Konrad J.
论文数: 0 引用数: 0
h-index: 0
机构:
Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA

Chen, Rong
论文数: 0 引用数: 0
h-index: 0
机构:
Stanford Univ, Dept Pediat, Sch Med, Div Syst Med, Stanford, CA 94305 USA Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA

Euskirchen, Ghia
论文数: 0 引用数: 0
h-index: 0
机构:
Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA
Stanford Univ, Ctr Genom & Personalized Med, Stanford, CA 94305 USA Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA

Butte, Atul J.
论文数: 0 引用数: 0
h-index: 0
机构:
Stanford Univ, Dept Pediat, Sch Med, Div Syst Med, Stanford, CA 94305 USA Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA

论文数: 引用数:
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[6]
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes
[J].
Comeaux, Matthew S.
;
Wang, Jing
;
Wang, Guoli
;
Kleppe, Soledad
;
Zhang, Victor Wei
;
Schmitt, Eric S.
;
Craigen, William J.
;
Renaud, Deborah
;
Sun, Qin
;
Wong, Lee-Jun
.
MOLECULAR GENETICS AND METABOLISM,
2013, 109 (03)
:260-268

Comeaux, Matthew S.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Wang, Jing
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Wang, Guoli
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Kleppe, Soledad
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Zhang, Victor Wei
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Schmitt, Eric S.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Craigen, William J.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Renaud, Deborah
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Dept Neurol, Rochester, MN 55901 USA
Mayo Clin, Dept Pediat, Rochester, MN 55901 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Sun, Qin
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Wong, Lee-Jun
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[7]
Substantial biases in ultra-short read data sets from high-throughput DNA sequencing
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Dohm, Juliane C.
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Lottaz, Claudio
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Borodina, Tatiana
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Himmelbauer, Heinz
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NUCLEIC ACIDS RESEARCH,
2008, 36 (16)

Dohm, Juliane C.
论文数: 0 引用数: 0
h-index: 0
机构:
Max Planck Inst Mol Genet, D-14195 Berlin, Germany Max Planck Inst Mol Genet, D-14195 Berlin, Germany

Lottaz, Claudio
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Regensburg, Inst Funct Genom, D-93053 Regensburg, Germany Max Planck Inst Mol Genet, D-14195 Berlin, Germany

Borodina, Tatiana
论文数: 0 引用数: 0
h-index: 0
机构:
Max Planck Inst Mol Genet, D-14195 Berlin, Germany Max Planck Inst Mol Genet, D-14195 Berlin, Germany

Himmelbauer, Heinz
论文数: 0 引用数: 0
h-index: 0
机构:
Max Planck Inst Mol Genet, D-14195 Berlin, Germany Max Planck Inst Mol Genet, D-14195 Berlin, Germany
[8]
Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency
[J].
El-Gharbawy, Areeg H.
;
Goldstein, Jennifer L.
;
Millington, David S.
;
Vaisnins, Arnie E.
;
Schlune, Andrea
;
Barshop, Bruce A.
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Schulze, Andreas
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Koeberl, Dwight D.
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Young, Sarah P.
.
MOLECULAR GENETICS AND METABOLISM,
2013, 109 (02)
:215-217

El-Gharbawy, Areeg H.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ Med Ctr, Div Med Genet, Dept Pediat, Durham, NC USA Duke Univ Med Ctr, Div Med Genet, Dept Pediat, Durham, NC USA

Goldstein, Jennifer L.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ Med Ctr, Div Med Genet, Dept Pediat, Durham, NC USA Duke Univ Med Ctr, Div Med Genet, Dept Pediat, Durham, NC USA

Millington, David S.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ Med Ctr, Div Med Genet, Dept Pediat, Durham, NC USA Duke Univ Med Ctr, Div Med Genet, Dept Pediat, Durham, NC USA

Vaisnins, Arnie E.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ Hlth Syst, Duke Biochem Genet Lab, Durham, NC USA Duke Univ Med Ctr, Div Med Genet, Dept Pediat, Durham, NC USA

Schlune, Andrea
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Dept Gen Pediat Neonatol & Pediat Cardiol, Dusseldorf, Germany Duke Univ Med Ctr, Div Med Genet, Dept Pediat, Durham, NC USA

Barshop, Bruce A.
论文数: 0 引用数: 0
h-index: 0
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Univ Calif San Diego, Dept Pediat, Div Genet, La Jolla, CA 92093 USA Duke Univ Med Ctr, Div Med Genet, Dept Pediat, Durham, NC USA

Schulze, Andreas
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h-index: 0
机构:
Univ Toronto, Hosp Sick Children, Dept Pediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada
Univ Toronto, Hosp Sick Children, Res Inst, Toronto, ON M5G 1X8, Canada Duke Univ Med Ctr, Div Med Genet, Dept Pediat, Durham, NC USA

Koeberl, Dwight D.
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机构:
Duke Univ Med Ctr, Div Med Genet, Dept Pediat, Durham, NC USA Duke Univ Med Ctr, Div Med Genet, Dept Pediat, Durham, NC USA

Young, Sarah P.
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Duke Univ Med Ctr, Div Med Genet, Dept Pediat, Durham, NC USA Duke Univ Med Ctr, Div Med Genet, Dept Pediat, Durham, NC USA
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Mercimek-Mahmutoglu, S.
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机构: Univ British Columbia, Dept Pediat, Div Biochem Dis, British Columbia Childrens Hosp, Vancouver, BC V6H 3V4, Canada

Stoeckler-Ipsiroglu, S.
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h-index: 0
机构: Univ British Columbia, Dept Pediat, Div Biochem Dis, British Columbia Childrens Hosp, Vancouver, BC V6H 3V4, Canada

Adami, A.
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h-index: 0
机构: Univ British Columbia, Dept Pediat, Div Biochem Dis, British Columbia Childrens Hosp, Vancouver, BC V6H 3V4, Canada

Appleton, R.
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h-index: 0
机构: Univ British Columbia, Dept Pediat, Div Biochem Dis, British Columbia Childrens Hosp, Vancouver, BC V6H 3V4, Canada

Araujo, H. Caldeira
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h-index: 0
机构: Univ British Columbia, Dept Pediat, Div Biochem Dis, British Columbia Childrens Hosp, Vancouver, BC V6H 3V4, Canada

Duran, M.
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h-index: 0
机构: Univ British Columbia, Dept Pediat, Div Biochem Dis, British Columbia Childrens Hosp, Vancouver, BC V6H 3V4, Canada

Ensenauer, R.
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h-index: 0
机构: Univ British Columbia, Dept Pediat, Div Biochem Dis, British Columbia Childrens Hosp, Vancouver, BC V6H 3V4, Canada

Fernandez-Alvarez, E.
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h-index: 0
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Garcia, P.
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机构: Univ British Columbia, Dept Pediat, Div Biochem Dis, British Columbia Childrens Hosp, Vancouver, BC V6H 3V4, Canada

Grolik, C.
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h-index: 0
机构: Univ British Columbia, Dept Pediat, Div Biochem Dis, British Columbia Childrens Hosp, Vancouver, BC V6H 3V4, Canada

Item, C. B.
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h-index: 0
机构: Univ British Columbia, Dept Pediat, Div Biochem Dis, British Columbia Childrens Hosp, Vancouver, BC V6H 3V4, Canada

Leuzzi, V.
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机构: Univ British Columbia, Dept Pediat, Div Biochem Dis, British Columbia Childrens Hosp, Vancouver, BC V6H 3V4, Canada

Marquardt, I.
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机构: Univ British Columbia, Dept Pediat, Div Biochem Dis, British Columbia Childrens Hosp, Vancouver, BC V6H 3V4, Canada

Muehl, A.
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机构: Univ British Columbia, Dept Pediat, Div Biochem Dis, British Columbia Childrens Hosp, Vancouver, BC V6H 3V4, Canada

Saelke-Kellermann, R. A.
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机构: Univ British Columbia, Dept Pediat, Div Biochem Dis, British Columbia Childrens Hosp, Vancouver, BC V6H 3V4, Canada

Salomons, G. S.
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机构: Univ British Columbia, Dept Pediat, Div Biochem Dis, British Columbia Childrens Hosp, Vancouver, BC V6H 3V4, Canada

Schulze, A.
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机构: Univ British Columbia, Dept Pediat, Div Biochem Dis, British Columbia Childrens Hosp, Vancouver, BC V6H 3V4, Canada

Surtees, R.
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h-index: 0
机构: Univ British Columbia, Dept Pediat, Div Biochem Dis, British Columbia Childrens Hosp, Vancouver, BC V6H 3V4, Canada

van der Knaap, M. S.
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h-index: 0
机构: Univ British Columbia, Dept Pediat, Div Biochem Dis, British Columbia Childrens Hosp, Vancouver, BC V6H 3V4, Canada

Vasconcelos, R.
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h-index: 0
机构: Univ British Columbia, Dept Pediat, Div Biochem Dis, British Columbia Childrens Hosp, Vancouver, BC V6H 3V4, Canada

Verhoeven, N. M.
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h-index: 0
机构: Univ British Columbia, Dept Pediat, Div Biochem Dis, British Columbia Childrens Hosp, Vancouver, BC V6H 3V4, Canada

Vilarinho, L.
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h-index: 0
机构: Univ British Columbia, Dept Pediat, Div Biochem Dis, British Columbia Childrens Hosp, Vancouver, BC V6H 3V4, Canada

Wilichowski, E.
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机构: Univ British Columbia, Dept Pediat, Div Biochem Dis, British Columbia Childrens Hosp, Vancouver, BC V6H 3V4, Canada

Jakobs, C.
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Univ Toronto, Dept Pediat, Div Clin & Metab Genet, Toronto, ON MG5, Canada Univ Toronto, Dept Pediat, Div Clin & Metab Genet, Toronto, ON MG5, Canada

Sinclair, G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, Dept Pathol, Biochem Genet Lab, Vancouver, BC, Canada Univ Toronto, Dept Pediat, Div Clin & Metab Genet, Toronto, ON MG5, Canada

van Dooren, S. J. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Vrije Univ Amsterdam, Med Ctr, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands Univ Toronto, Dept Pediat, Div Clin & Metab Genet, Toronto, ON MG5, Canada

Kanhai, W.
论文数: 0 引用数: 0
h-index: 0
机构:
Vrije Univ Amsterdam, Med Ctr, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands Univ Toronto, Dept Pediat, Div Clin & Metab Genet, Toronto, ON MG5, Canada

Ashcraft, P.
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h-index: 0
机构:
Baylor Res Inst, Inst Metab Dis, Dallas, TX USA Univ Toronto, Dept Pediat, Div Clin & Metab Genet, Toronto, ON MG5, Canada

Michel, O. J.
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h-index: 0
机构:
Vrije Univ Amsterdam, Dept Clin Chem, Mol Biol Unit, Amsterdam, Netherlands Univ Toronto, Dept Pediat, Div Clin & Metab Genet, Toronto, ON MG5, Canada

Nelson, J.
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h-index: 0
机构:
Univ British Columbia, Dept Pathol, Biochem Genet Lab, Vancouver, BC, Canada Univ Toronto, Dept Pediat, Div Clin & Metab Genet, Toronto, ON MG5, Canada

Betsalel, O. T.
论文数: 0 引用数: 0
h-index: 0
机构:
Vrije Univ Amsterdam, Med Ctr, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands Univ Toronto, Dept Pediat, Div Clin & Metab Genet, Toronto, ON MG5, Canada

Sweetman, L.
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h-index: 0
机构:
Baylor Res Inst, Inst Metab Dis, Dallas, TX USA Univ Toronto, Dept Pediat, Div Clin & Metab Genet, Toronto, ON MG5, Canada

Jakobs, C.
论文数: 0 引用数: 0
h-index: 0
机构:
Vrije Univ Amsterdam, Med Ctr, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands Univ Toronto, Dept Pediat, Div Clin & Metab Genet, Toronto, ON MG5, Canada

Salomons, G. S.
论文数: 0 引用数: 0
h-index: 0
机构:
Vrije Univ Amsterdam, Med Ctr, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands Univ Toronto, Dept Pediat, Div Clin & Metab Genet, Toronto, ON MG5, Canada