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American journal of human genetics, ISSN 0002-9297, 11/2011, Volume 89, Issue 5, pp. 634 - 643
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Nephropathies. Renovascular diseases. Renal failure | Renal failure | Medical genetics | Nephrology. Urinary tract diseases | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Polycystic Kidney Diseases - genetics | Oligonucleotide Array Sequence Analysis | Humans | Molecular Sequence Data | Male | Mutation, Missense | Young Adult | Netherlands | Morocco | Adult | Female | Flagella - genetics | Child | Craniofacial Abnormalities - genetics | Fibroblasts - metabolism | Polycystic Kidney Diseases - congenital | Cilia - pathology | Short Rib-Polydactyly Syndrome - genetics | Cilia - genetics | Proteins - genetics | Exome - genetics | Flagella - pathology | Norway | Pedigree | Adolescent | Thoracic Diseases - genetics | Ectodermal Dysplasia - genetics | Genetic disorders | Mutation | Gene expression | Morphology | Cells | Index Medicus | Renal insufficiency | Missense mutation | Nephronophthisis | Nephropathy | Retinitis pigmentosa | Polydactyly | Fibroblasts | Abundance | Cilia | Jeune syndrome | Report
Journal Article
American journal of human genetics, ISSN 0002-9297, 03/2014, Volume 94, Issue 3, pp. 405 - 414
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Pentosyltransferases - genetics | Genetic Predisposition to Disease | Polydactyly - genetics | Humans | Joint Instability - genetics | Proteoglycans - metabolism | Male | Pentosyltransferases - metabolism | Sequence Analysis, DNA | Microsatellite Repeats - genetics | Exome | Dwarfism - genetics | Homozygote | Bone and Bones - metabolism | Adolescent | Adult | Female | Consanguinity | Mutation | Ossification, Heterotopic - genetics | Child | DNA, Complementary - metabolism | Craniofacial Abnormalities - genetics | Fibroblasts - metabolism | Enzymes | Dysplasia | Genetic aspects | Health aspects | Mutation (Biology) | Cell culture | Biosynthesis | Genetic disorders | Genes | Index Medicus | Life Sciences | Genetics | Biomolecules | Biochemistry, Molecular Biology | Human genetics
Journal Article
American journal of human genetics, ISSN 0002-9297, 07/2011, Volume 89, Issue 1, pp. 94 - 110
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Neurology | Malformations of the nervous system | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Polycystic Kidney Diseases - genetics | Amino Acid Sequence | NIH 3T3 Cells | Polydactyly - genetics | Signal Transduction | Humans | Mice, Inbred C57BL | RNA, Messenger - genetics | Molecular Sequence Data | RNA, Messenger - metabolism | Protein Transport - genetics | Zebrafish - genetics | Proteins - genetics | Homozygote | Phenotype | Animals | Proteins - metabolism | DNA Mutational Analysis | Mice | Mutation | Ciliary Motility Disorders - genetics | Encephalocele - genetics | Genetic Linkage | Neural Tube - abnormalities | Eye | Gene mutations | Causes of | Muscles | Physiological aspects | Genetic aspects | Meckel-Gruber syndrome | Diagnosis | Research | Proteins | Genotype & phenotype | Genetic disorders | Rodents | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 2008, Volume 82, Issue 2, pp. 304 - 319
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Eye - metabolism | Bone Morphogenetic Protein 4 | Polydactyly - genetics | Humans | Electrophysiology | Hedgehog Proteins - metabolism | DNA Primers - genetics | Signal Transduction - genetics | Bone Morphogenetic Proteins - metabolism | Eye - embryology | In Situ Hybridization | Hedgehog Proteins - genetics | Chromosome Aberrations | Nervous System Malformations - genetics | Bone Morphogenetic Proteins - genetics | Chromosomes, Human, Pair 14 - genetics | Frameshift Mutation - genetics | Cohort Studies | Child development deviations | Bone morphogenetic proteins | Genetic aspects | Research | Structure | Developmental disabilities | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 372 - 378
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Humans | Fetus - pathology | Hedgehog Proteins - metabolism | Molecular Sequence Data | Foot Deformities, Congenital - genetics | Cleft Palate - genetics | Cerebellum - abnormalities | Young Adult | Base Sequence | Child | Intracellular Signaling Peptides and Proteins - genetics | Foot Deformities, Congenital - pathology | Membrane Proteins - genetics | Orofaciodigital Syndromes - genetics | Signal Transduction - genetics | Mutation - genetics | Sequence Analysis, DNA | Cerebellum - pathology | Orofaciodigital Syndromes - pathology | Homozygote | Exome - genetics | Phenotype | Hand Deformities, Congenital - genetics | Cleft Palate - pathology | Adolescent | Hand Deformities, Congenital - pathology | Proteins | Genotype & phenotype | Signal transduction | Genetic disorders | Mutation | Genomics | Index Medicus | Brain | Orofaciodigital syndrome | Congenital defects | Fetuses | Brain mapping | Data processing | Rib | Neurodevelopmental disorders | Kidney | Oral cavity | Missense mutation | Hedgehog protein | Polydactyly | Bone dysplasia | Report
Journal Article
American journal of human genetics, ISSN 0002-9297, 01/2011, Volume 88, Issue 1, pp. 106 - 114
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Cilia - physiology | NIMA-Related Kinase 1 | Severity of Illness Index | Humans | Cytoplasmic Dyneins - genetics | Protein-Serine-Threonine Kinases - genetics | Male | Short Rib-Polydactyly Syndrome - genetics | Chromosome Mapping | DNA Repair - genetics | Genes, Recessive | Sequence Analysis, DNA | Cilia - genetics | Radiography | Short Rib-Polydactyly Syndrome - diagnostic imaging | Phenotype | Cell Cycle Proteins - genetics | Female | Heterozygote | Short Rib-Polydactyly Syndrome - pathology | Mutation | Causes of | Cellular signal transduction | Genetic aspects | Research | Gene mutations | Short rib-polydactyly syndrome | Genotype & phenotype | Signal transduction | Genomics | Cell cycle | Kinases | DNA repair | Index Medicus | Report
Journal Article
Nature genetics, ISSN 1061-4036, 10/2017, Volume 49, Issue 10, pp. 1539 - 1545
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Gene Duplication | Regulatory Sequences, Nucleic Acid | Gene Expression Regulation, Developmental - genetics | Foot Deformities, Congenital - genetics | Hedgehog Proteins - physiology | Bone Diseases, Developmental - genetics | DNA-Binding Proteins - deficiency | DNA Copy Number Variations | Hedgehog Proteins - genetics | Base Sequence | Gene Deletion | Skull - abnormalities | Transcription, Genetic | Genes, Reporter | Hedgehog Proteins - deficiency | Osteogenesis - genetics | Polydactyly - genetics | Mice, Inbred C57BL | Gene Dosage | DNA-Binding Proteins - genetics | Gene Knockout Techniques | Sequence Analysis, DNA | Animals | Enhancer Elements, Genetic - genetics | Mice | Copy number variations | Abnormalities | Bones | Development and progression | Genetic aspects | Gene expression | Health aspects | Hedgehog proteins | Sequences | Copy number | Craniosynostosis | Transgenic | Genomes | Microcephaly | Dosage | Kinases | DNA repair | Studies | Enhancers | Developmental stages | Hedgehog protein | Rodents | Stem cells | Sutures | Syndactyly | Skull | Bioinformatics | Binding sites | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 06/2007, Volume 39, Issue 6, pp. 727 - 729
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Asphyxia - genetics | Tetrahymena thermophila - genetics | Polydactyly - genetics | Humans | Male | Bone Diseases, Developmental - genetics | Mutation - genetics | Zebrafish - growth & development | Zebrafish - genetics | Tetrahymena thermophila - growth & development | Carrier Proteins - genetics | Animals | Pedigree | Kidney Diseases, Cystic - genetics | Female | Thoracic Diseases - genetics | Infant, Newborn | Care and treatment |