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Vanessa Lin Lin Lee et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2018)
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Suvasini Sharma et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2017)
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Lama Assi et al.
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CURRENT OPINION IN NEUROLOGY (2017)
The genetic landscape of the epileptic encephalopathies of infancy and childhood
Amy McTague et al.
LANCET NEUROLOGY (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
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Nicholas E. Burgis
JOURNAL OF BIOMEDICAL SCIENCE (2016)
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Sietske H. Kevelam et al.
ANNALS OF NEUROLOGY (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
Nara Sobreira et al.
HUMAN MUTATION (2015)
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Shamima Rahman et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2013)
Association Between Adverse Effects Under Azathioprine Therapy and Inosine Triphosphate Pyrophosphatase Activity in Patients With Chronic Inflammatory Bowel Disease
Maria Shipkova et al.
THERAPEUTIC DRUG MONITORING (2011)
PyRosetta: a script-based interface for implementing molecular modeling algorithms using Rosetta
Sidhartha Chaudhury et al.
BIOINFORMATICS (2010)
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Nona Abolhassani et al.
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ITPase-deficient mice show growth retardation and die before weaning
M. Behmanesh et al.
CELL DEATH AND DIFFERENTIATION (2009)
SLC4A11 mutations in Fuchs endothelial corneal dystrophy
Eranga N. Vithana et al.
HUMAN MOLECULAR GENETICS (2008)
Pharmacogenetic significance of inosine triphosphatase
Jorgen Bierau et al.
PHARMACOGENOMICS (2007)
House cleaning, a part of good housekeeping
MY Galperin et al.
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Kinetics of muscle contraction and actomyosin NTP hydrolysis from rabbit using a series of metal-nucleoticle substrates
K Burton et al.
JOURNAL OF PHYSIOLOGY-LONDON (2005)
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
C Shaw-Smith et al.
JOURNAL OF MEDICAL GENETICS (2004)
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JH Christensen et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2004)