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Nicolaides Baraitser syndrome

Known as: NCBRS, NICOLAIDES-BARAITSER SYNDROME, Sparse hair and mental retardation 
 
National Institutes of Health

Related topics

Related topics

13 relations
Aggressive behaviorAutosomal dominant inheritanceCryptorchidismFailure to Thrive
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Broader (4)

Congenital Foot DeformityFaciesHypotrichosisIntellectual Disability

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
Coffin–Siris and Nicolaides–Baraitser syndromes (CSS and NCBRS) are Mendelian disorders caused by mutations in subunits of the… Expand
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Highly Cited
2015
Highly Cited
2015
Modelling of oil spills in confined maritime basins: The case for early response in the Eastern Mediterranean Sea.
Oil spill models are combined with bathymetric, meteorological, oceanographic, and geomorphological data to model a series of oil… Expand
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2015
2015
Generative Learning
This study explored the extent to which ambiguity can serve as a catalyst for adult learning. The purpose of this study is to… Expand
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Review
2014
Review
2014
Phenotype and genotype in Nicolaides-Baraitser syndrome.
Nicolaides-Baraitser syndrome (NCBRS) is an intellectual disability (ID)/multiple congenital anomalies syndrome caused by non… Expand
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Highly Cited
2013
Highly Cited
2013
SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy.
OBJECTIVE This study aimed to develop a single-nucleotide polymorphism-based and informatics-based non-invasive prenatal test… Expand
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2007
2007
The SANAD study of eff ectiveness of carbamazepine , gabapentin , lamotrigine , oxcarbazepine , or topiramate for treatment of partial epilepsy : an unblinded randomised controlled trial
Anthony G Marson, Asya M Al-Kharusi, Muna Alwaidh, Richard Appleton, Gus A Baker, David W Chadwick, Celia Cramp, Oliver C… Expand
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2006
2006
Computer aided diagnosis based on medical image processing and artificial intelligence methods
Advances in imaging technology and computer science have greatly enhanced interpretation of medical images, and contributed to… Expand
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Highly Cited
2003
Highly Cited
2003
Organizational Learning in Multinationals: R&D Networks of Japanese and US MNEs in the UK
The institutional approach treats organisational forms and behaviour as contingent upon institutions that are durable and… Expand
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2002
2002
How accurate is the self-reported diagnosis of chronic bronchitis?
BACKGROUND Although it is defined as cough and sputum production for at least 3 months per year for at least 2 consecutive years… Expand
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2001
2001
Role of ultrasound in obstetrics
Abstract Ultrasound has largely been believed to be useful in pregnancy, providing carers with ever-increasing information. The… Expand
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