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1926, 127 p., [8] leaves of plates
Book
The American Journal of Human Genetics, ISSN 0002-9297, 12/2012, Volume 91, Issue 6, pp. 1051 - 1064
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, pp. 468 - 474
Cobblestone brain malformation (COB) is a neuronal migration disorder characterized by protrusions of neurons beyond the first cortical layer at the pial... 
NEURONAL MIGRATION | DYSTROGLYCANOPATHIES | POPULATION | GENES | GENETICS & HEREDITY | LAMINATION | CORTICAL DEVELOPMENT | RADIAL GLIA | DYSTROPHIES | EXPRESSION | DEFICIENCY | Neurons - pathology | Sequence Deletion | Neuroglia - pathology | Humans | Cerebral Cortex - pathology | Male | Walker-Warburg Syndrome - genetics | Brain - abnormalities | Muscular Dystrophies - genetics | Basement Membrane - pathology | Encephalocele - metabolism | Cerebral Cortex - metabolism | Brain - metabolism | Nervous System Malformations - metabolism | Walker-Warburg Syndrome - metabolism | Female | Neurons - metabolism | Nervous System Malformations - genetics | Encephalocele - genetics | Walker-Warburg Syndrome - pathology | Genetic Predisposition to Disease | Muscular Dystrophies - metabolism | Nervous System Malformations - pathology | Cerebellum - metabolism | Muscular Dystrophies - pathology | Basement Membrane - metabolism | Cerebellum - pathology | Laminin - genetics | Homozygote | Encephalocele - pathology | Brain - pathology | Neuroglia - metabolism | Brain | Gene mutations | Neurons | Neuroglia | Abnormalities | Physiological aspects | Causes of | Genetic aspects | Research | Medical colleges | Neurosciences | Genetic disorders | Laminin | Medical genetics | Genetic research | Eye diseases | Mutation | Muscular dystrophy | Cells | Brain diseases | Index Medicus | Report
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2014, Volume 94, Issue 1, pp. 80 - 86
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2013, Volume 92, Issue 5, pp. 792 - 799
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 552 - 563
The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is... 
polymicrogyria | developmental defects | hypomorphic variants | congenital ataxia | ciliopathies | SUFU | Joubert syndrome | Sonic Hedgehog | molar tooth sign | GLI3 | SHH | SIGNALING PATHWAY | GENETICS & HEREDITY | PLANAR CELL POLARITY | CEREBELLAR DEVELOPMENT | GLI PROTEINS | MUTATIONS | KIF7 | MEDULLOBLASTOMA | PHENOTYPIC SPECTRUM | PRIMARY CILIA | Abnormalities, Multiple - pathology | Skin - metabolism | Humans | Zinc Finger Protein Gli3 | Hedgehog Proteins - metabolism | Male | Bone Diseases, Developmental - genetics | Mutation, Missense | Cerebellum - abnormalities | Bone Diseases, Developmental - pathology | Gene Expression Regulation, Developmental | Kruppel-Like Transcription Factors - metabolism | Kidney Diseases, Cystic - genetics | Craniofacial Abnormalities - pathology | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Repressor Proteins - metabolism | Skin - pathology | Fibroblasts - metabolism | Repressor Proteins - chemistry | Signal Transduction | Cells, Cultured | Repressor Proteins - genetics | Eye Abnormalities - genetics | Fibroblasts - pathology | Genes, Recessive | Sequence Analysis, DNA | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Nerve Tissue Proteins - metabolism | Eye Abnormalities - pathology | Retina - abnormalities | Retina - pathology | Cohort Studies | Embryonic development | Usage | Gene mutations | Analysis | Nucleotide sequencing | Research | Diagnosis | Children | Health aspects | DNA sequencing | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, pp. 392 - 400
The corpus callosum is the principal cerebral commissure connecting the right and left hemispheres. The development of the corpus callosum is under tight... 
PHYLOGENY RECONSTRUCTION | SIZE | GENETICS & HEREDITY | Amino Acid Sequence | Genetic Predisposition to Disease | Corpus Callosum - metabolism | Humans |