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Profound global developmental delay

Known as: Global developmental delay, profound 
A profound delay in the achievement of motor or mental milestones in the domains of development of a child. [DDD:hvfirth]
National Institutes of Health

Papers overview

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2019
2019
Nuclear pore complex (NPC) is a fundamental component of the nuclear envelope and is key to the nucleocytoplasmic transport… Expand
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2018
2018
Biallelic mutations in NALCN are responsible for infantile hypotonia with psychomotor retardation and characteristic facies 1… Expand
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2017
2017
The WW domain-containing oxidoreductase gene is implicated in autosomal recessive disorders of the central nervous system… Expand
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2016
2016
INTRODUCTION Early onset epileptic encephalopathies (EOEEs) are a group of devastating diseases, manifesting in the first year of… Expand
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2016
2016
Next-generation sequencing has accelerated the identification of disease genes in many rare genetic disorders including early… Expand
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2014
2014
We present a 4-year-old girl with profound global developmental delay and refractory epilepsy characterized by multiple seizure… Expand
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2013
2013
We describe an 11 month old female with Prader-Willi syndrome (PWS) resulting from an atypically large deletion of proximal 15q… Expand
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Highly Cited
2012
Highly Cited
2012
RNA exosomes are multi-subunit complexes conserved throughout evolution and are emerging as the major cellular machinery for… Expand
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2009
2009
Statins are considered to be a standard treatment for hyperlipidemia. Central nervous system, limb and midline defects have been… Expand
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1991
1991
The diagnosis of Angelman syndrome (AS) has seldom been made in infants because the previously described characteristic… Expand
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