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1,075 authors found
quering by "Osteochondrodysplasia"
.
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the first 25
sort by ONE Index.
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868
One Index
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Ikegawa, Shiro PhD 0000-0003-0316-2147 |
500 docs (1990 - 2024)
Genome-wide association study , Genetic association , Adolescent Idiopathic Scoliosis , SNP , Osteoarthritis |
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850
One Index
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Mastroiacovo, Pierpaolo PhD 0000-0002-8318-8664 |
185 docs (1976 - 2024)
Trisomy Detection , Congenital malformations , Omphalocele , Gastroschisis , Etiology |
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848
One Index
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Wilcox, William PhD 0000-0002-0325-0377 |
549 docs (1898 - 2024)
Fabry Disease , Solidification , Ampoule , Crystal (programming language) , Temperature gradient |
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847
One Index
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Kayserili, Hülya PhD 0000-0003-0376-499X |
321 docs (1994 - 2024)
Microcephaly , Proband , Ciliopathy , Joubert syndrome , Ciliopathies |
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845
One Index
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Francomano, Clair PhD 0000-0002-4032-7425 |
237 docs (1971 - 2024)
Ehlers–Danlos syndrome , Ehlers-Danlos Syndrome , Achondroplasia , Joint hypermobility , Genetic linkage |
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830
One Index
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David L. Rimoin PhD |
395 docs (1964 - 2019)
Dwarfism , Achondroplasia , Osteochondrodysplasia , Collagen Disorders , Skeletal Complications |
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829
One Index
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Whyte, Michael PhD 0000-0002-8755-8490 |
725 docs (1969 - 2024)
Hypophosphatasia , hyperphosphatemia , Hypophosphatemia , Alkaline Phosphatase , Osteomalacia |
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828
One Index
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Robertson, Stephen PhD 0000-0002-5181-7809 |
221 docs (1974 - 2024)
FLNA , Smooth Muscle Alpha-Actin Mutations , Proband , Heterotopia (medicine) , Haploinsufficiency |
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826
One Index
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Bebber, Daniel PhD 0000-0003-4440-1482 |
397 docs (1685 - 2024)
Osteogenesis Imperfecta , Type I collagen , Ecosystem Functioning , Procollagen peptidase , Ehlers–Danlos syndrome |
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822
One Index
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Beighton, Peter PhD 0000-0002-0026-1257 |
722 docs (1966 - 2023)
Hypermobility (travel) , Joint hypermobility , Inheritance (genetic algorithm) , Ehlers–Danlos syndrome , Skeletal Complications |
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817
One Index
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Cohn, Daniel PhD 0000-0003-0388-4457 |
186 docs (1976 - 2024)
Osteogenesis Imperfecta , Type I collagen , Collagen Disorders , Polydactyly , Procollagen peptidase |
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814
One Index
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Hecht, Jacqueline PhD 0000-0002-9087-3379 |
527 docs (1929 - 2024)
Achondroplasia , Cleft Lip , Cleft Palate , Genome-wide association study , Genetic linkage |
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813
One Index
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Brian C. Sykes PhD |
155 docs (1971 - 2023)
Osteogenesis Imperfecta , Genetic linkage , Collagen Disorders , Linkage (software) , Type I collagen |
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810
One Index
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Mellis, Rhiannon PhD 0000-0001-9905-0654 |
25 docs (2018 - 2024)
Fetal DNA Analysis , Prenatal Diagnosis , Maternal Plasma DNA Sequencing , Trisomy Detection , Exome |
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809
One Index
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Cormier-Daire, Valerie PhD 0000-0002-2839-9856 |
1192 docs (1989 - 2024)
Achondroplasia , Polydactyly , Brachydactyly , Haploinsufficiency , Ciliopathy |
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801
One Index
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Ibrahim Halil Kalelioglu |
6 docs (2024 - 2024)
Osteogenesis Imperfecta , Dentinogenesis Imperfecta , Osteochondrodysplasia , Prenatal ultrasound |
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798
One Index
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Sillence, David Owen PhD 0000-0002-5638-2998 |
170 docs (1975 - 2024)
Osteogenesis Imperfecta , Achondroplasia , Fabry Disease , Osteochondrodysplasia , Nosology |
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793
One Index
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Zankl, Andreas PhD 0000-0001-8612-1062 |
129 docs (1997 - 2024)
Achondroplasia , Phenotype Ontology , Ciliopathies , Compound heterozygosity , Phenotype Analysis |
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789
One Index
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Song, Hae-Ryong PhD 0000-0002-7743-016X |
290 docs (1991 - 2024)
Achondroplasia , Internal Fixation , Limb Reconstruction , Callus , Bone Healing |
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787
One Index
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Zabel, Bernhard PhD 0000-0002-7796-2991 |
239 docs (1974 - 2021)
Brachydactyly , Southern blot , Collagen Disorders , HBeAg , Haploinsufficiency |
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786
One Index
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Moosa, Shahida PhD 0000-0002-4463-3067 |
60 docs (2012 - 2024)
Osteogenesis Imperfecta , Phenotype Analysis , Geneticist , Medical genetics , Rare disease |
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784
One Index
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JuergenSp PhD 0000-0002-7034-9596 |
459 docs (1960 - 2023)
Mucopolysaccharidoses , Osteochondrodysplasia , Dwarfism , Osteogenesis Imperfecta , Skeletal Complications |
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781
One Index
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Superti-Furga, Andrea PhD 0000-0002-3543-7531 |
686 docs (1983 - 2024)
Inborn Errors of Metabolism , Ehlers–Danlos syndrome , Osteogenesis Imperfecta , Skeletal Complications , Osteochondrodysplasia |
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781
One Index
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Leena M. Ala‐Kokko PhD |
174 docs (1986 - 2019)
Procollagen peptidase , Lumbar Disc Degeneration , Collagen Disorders , Degenerative Disc Disease , Table (database) |
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781
One Index
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Mortier, Geert PhD 0000-0001-9871-4578 |
902 docs (1951 - 2024)
Neurofibromatosis , Osteogenesis Imperfecta , Metabolic Disorders , Metastatic Bone Disease , Proband |
