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Chinese Journal of Medical Imaging Technology, ISSN 1003-3289, 09/2017, Volume 33, Issue 9, p. 1370
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 04/2011, Volume 364, Issue 16, pp. 1533 - 1543
Journal Article
Pediatric Neurosurgery, ISSN 1016-2291, 07/2019, Volume 54, Issue 4, pp. 277 - 280
The Meckel-Gruber syndrome is a rare, congenital, and lethal malformation characterized by typical manifestations such as encephalocele, polycystic kidneys,... 
Novel Insights from Clinical Practice | SURGERY | Encephalocele | Polycystic kidneys | Polydactyly | PEDIATRICS | Meckel-Gruber syndrome | CLINICAL NEUROLOGY
Journal Article
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 04/2013, Volume 22, Issue 7, pp. 1358 - 1372
The ciliopathies are a group of heterogeneous diseases with considerable variations in phenotype for allelic conditions such as MeckelGruber syndrome (MKS) and... 
CILIARY | MECKELIN | GRUBER-SYNDROME | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE MODEL | GENETICS & HEREDITY | MKS1 | MALFORMATION | PATHOLOGY | PROTEINS | IDENTIFICATION | PRIMARY CILIUM
Journal Article
Revista Cubana de Obstetricia y Ginecologia, ISSN 0138-600X, 10/2017, Volume 43, Issue 4, pp. 84 - 92
Journal Article
Journal Article
Journal of Cell Biology, ISSN 0021-9525, 03/2011, Volume 192, Issue 6, pp. 1023 - 1041
Journal Article
Cell, ISSN 0092-8674, 2011, Volume 147, Issue 1, pp. 70 - 79
Journal Article
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 03/2012, Volume 21, Issue 6, pp. 1272 - 1286
MKS3, encoding the transmembrane receptor meckelin, is mutated in MeckelGruber syndrome (MKS), an autosomal-recessive ciliopathy. Meckelin localizes to the... 
JOUBERT-SYNDROME | EMBRYONIC-DEVELOPMENT | GENE | PERIVENTRICULAR HETEROTOPIA | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | PLANAR CELL POLARITY | ACTIN CYTOSKELETON | MUTATIONS | FILAMIN-A | MECKEL-GRUBER-SYNDROME | BASAL BODY PROTEIN
Journal Article
Journal Article