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Nature Genetics, ISSN 1061-4036, 10/2017, Volume 49, Issue 10, pp. 1539 - 1545
Journal Article
Nature Genetics, ISSN 1061-4036, 2016, Volume 48, Issue 7, pp. 777 - 784
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2014, Volume 95, Issue 1, pp. 96 - 107
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2013, Volume 92, Issue 6, pp. 990 - 995
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
Journal Article
Osteoporosis International, ISSN 0937-941X, 10/2015, Volume 26, Issue 10, pp. 2529 - 2558
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 282 - 289
Genitopatellar syndrome (GPS) is a skeletal dysplasia with cerebral and genital anomalies for which the molecular basis has not yet been determined. By exome... 
STEM-CELLS | COACTIVATOR | PROTEIN | ANOMALIES | GENETICS & HEREDITY | PHENOTYPE | TUMOR | LMX1B | IDENTIFICATION | ABSENT PATELLAE | FEMALE | Blepharoptosis - genetics | Blepharophimosis - enzymology | Humans | Urogenital Abnormalities - enzymology | Histone Acetyltransferases - genetics | Male | Bone Diseases, Developmental - genetics | Cerebellum - abnormalities | Intellectual Disability - genetics | Exome | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Rubinstein-Taybi Syndrome - genetics | Epigenomics - methods | Blepharoptosis - enzymology | Heart Defects, Congenital - enzymology | Intellectual Disability - enzymology | Female | Rubinstein-Taybi Syndrome - enzymology | Musculoskeletal Abnormalities - enzymology | Abnormalities, Multiple - genetics | Mice, Inbred C57BL | Phenotype | Animals | Bone Diseases, Developmental - enzymology | Musculoskeletal Abnormalities - genetics | Abnormalities, Multiple - enzymology | Heterozygote | Mice | Mutation | Sequence Analysis, DNA - methods | Urogenital Abnormalities - genetics | Brain | Dysplasia | Usage | Genetic disorders | Gene mutations | Exome sequencing | Physiological aspects | Causes of | Genetic aspects | Research | Histones | Analysis | Genomics | Medical genetics | Proteins | Rodents | Epigenetics | Genetic research | Gene expression | Cells | Index Medicus | Report
Journal Article