Meckel syndrome type 1

Known as: Meckel syndrome type1, MECKEL-GRUBER SYNDROME, TYPE 1, MECKEL-GRUBER SYNDROME 
 
National Institutes of Health

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Highly Cited
2011
Highly Cited
2011
The final article in a series of three publications examining the global distribution of 41 dominant vector species (DVS) of… (More)
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Highly Cited
2010
Highly Cited
2010
Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are ciliopathies. We now report that MKS2 and CORS2… (More)
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Highly Cited
2009
Highly Cited
2009
Meckel syndrome (MKS) is a lethal disorder characterized by renal cystic dysplasia, encephalocele, polydactyly and biliary… (More)
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Highly Cited
2008
Highly Cited
2008
Meckel-Gruber syndrome (MKS) is a genetically heterogeneous, neonatally lethal malformation and the most common form of syndromic… (More)
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Highly Cited
2008
Highly Cited
2008
Plant and animal perception of microbes through pathogen surveillance proteins leads to MAP kinase signalling and the expression… (More)
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Highly Cited
2007
Highly Cited
2007
Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations… (More)
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Highly Cited
2007
Highly Cited
2007
Joubert syndrome (JS) is an autosomal recessive disorder characterized by cerebellar vermis hypoplasia associated with hypotonia… (More)
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Highly Cited
2007
Highly Cited
2007
Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal malformation syndrome characterized by renal cystic dysplasia… (More)
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Highly Cited
2006
Highly Cited
2006
Meckel syndrome (MKS) is a severe fetal developmental disorder reported in most populations. The clinical hallmarks are occipital… (More)
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Highly Cited
2005
Highly Cited
2005
Arabidopsis MAP kinase 4 (MPK4) functions as a regulator of pathogen defense responses, because it is required for both… (More)
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