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Wiley电子期刊(1)
SpringerLink电子期刊(1)
Elsevier电子期刊(5)
在“
Elsevier电子期刊
”中,
命中:
5
条,耗时:小于0.01 秒
在所有数据库中总计命中:
7
条
1.
Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia
作者:
Kendra J. Bjoraker
;
PhD
1
;
&lowast
;
;
Michael A. Swanson
;
PhD
1
;
&lowast
;
;
Curtis R. Coughlin II
;
MS
;
MBe
1
;
John Christodoulou
;
MB
;
BS
;
PhD
2
;
Ee S. Tan
;
MB
;
BS
2
;
Mark Fergeson
;
MD
3
;
Sarah Dyack
;
MD
4
;
Ayesha Ahmad
;
MD
5
;
Marisa W. Friederich
;
PhD
1
;
Elaine
B.
Spector
;
PhD
1
;
Geralyn Creadon-Swindell
;
BS
1
;
M. Antoinette Hodge
;
DPsych
6
;
Sommer Gaughan
;
RD
1
;
Casey Burns
;
RD
1
;
Johan L.K. Van Hove
;
MD
;
PhD
1
;
Johan.Vanhove@ucdenver.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
AE
;
Age equivalent
;
BASC
;
Behavior Assessment System for Children
;
DQ
;
Developmental quotient
;
Mullen scales
;
Mullen Scales of Early Learning
;
NKH
;
Nonketotic hyperglycinemia
;
NMDA
;
N-methyl-D-aspartate
;
WPPSI
;
Wechsler Preschool and Primary Scale of Intelligence
刊名:The Journal of Pediatrics
出版年:2016
2.
Maternal glutaric acidemia, type I identified by newborn screening
作者:
Eric A. Crombez
;
Stephen D. Cederbaum
;
Elaine
Spector
;
Erica Chan
;
Denise Salazar
;
Julie Neidich
;
Stephen Goodman
关键词:
Glutaric acidemia
;
Type I
;
GA-I
;
Newborn screening
;
Maternal glutaric acidemia
刊名:Molecular Genetics and Metabolism
出版年:2008
3.
Management of a patient with holocarboxylase synthetase deficiency
作者:
Johan L.K. Van Hove
;
Sagi Josefsberg
;
Cynthia Freehauf
;
Janet A. Thomas
;
Le Phuc Thuy
;
Bruce A. Barshop
;
Michael Woontner
;
Donald M. Mock
;
Pei-Wen Chiang
;
Elaine
Spector
;
Ivá
;
n Meneses-Morales
;
Ra
关键词:
Holocarboxylase synthetase
;
Carboxylase
;
Kinetics
;
Biotin
刊名:Molecular Genetics and Metabolism
出版年:2008
4.
Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype
作者:
Gary A. Bellus
;
Elaine
B.
Spector
;
Phyllis W. Speiser
;
Christine A. Weaver
;
Anthony T. Garber
;
Christine R. Bryke
;
Jamie Israel
;
Sally S. Rosengren
;
Melanie K. Webster
;
Daniel J. Donoghue
;
Clair A. Francomano
刊名:The American Journal of Human Genetics
出版年:2000
5.
Assignment of Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase (ETF-QO) to Human Chromosome 4q33 by Fluorescence
in Situ
Hybridization and Somatic Cell Hybridization
作者:
Spector
;
Elaine
B.
;
Seltzer
;
William K.
;
Goodman
;
Stephen I.
刊名:Molecular Genetics and Metabolism
出版年:1999
1
按检索点细分(5)
作者(5)
按出版年细分(5)
2016年(1)
2008年(2)
2000年(1)
2000年及以前(1)
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