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1,064 authors found
quering by "Camptodactyly"
.
Showing
the first 25
sort by ONE Index.
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895
One Index
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Al-Mayouf, Sulaiman PhD 0000-0003-0142-6698 |
352 docs (1932 - 2024)
Systemic-onset Juvenile Idiopathic Arthritis , Juvenile Idiopathic Arthritis , Juvenile rheumatoid arthritis , Systemic Lupus Erythematosus , Juvenile Dermatomyositis |
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882
One Index
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Kerstin PhD 0000-0001-8494-8963 |
178 docs (1999 - 2024)
Costello syndrome , Microcephaly , CASK , Noonan Syndrome , Marfan Syndrome |
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867
One Index
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Hennekam, Raoul PhD 0000-0002-6745-1522 |
833 docs (1976 - 2024)
RubinsteinโTaybi syndrome , Microcephaly , Etiology , Medical genetics , Hypertelorism |
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858
One Index
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Al-Gazali, Lihadh PhD 0000-0003-2029-2218 |
260 docs (1988 - 2023)
Microcephaly , Joubert syndrome , Exome , Haploinsufficiency , Loss function |
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853
One Index
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Crisponi, Laura PhD 0000-0001-9128-8537 |
162 docs (1997 - 2024)
Genome-wide association study , Genetic association , Menarche , cytokine signaling , Steatosis |
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845
One Index
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Fayed, Mohamed PhD 0000-0003-1357-8277 |
62 docs (2015 - 2024)
2019-20 coronavirus outbreak , Pandemic , Supine position , Prone Positioning , Mechanically Ventilated Patients |
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833
One Index
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Warman, Matthew PhD 0000-0003-2020-3449 |
344 docs (1983 - 2024)
LRP5 , Sclerostin , Osteogenesis Imperfecta , Osteoblast Differentiation , Brachydactyly |
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833
One Index
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Holmes, Lewis B. PhD 0000-0002-0259-4848 |
419 docs (1941 - 2024)
Prenatal Diagnosis , Trisomy Detection , Prenatal Exposure , Congenital malformations , Pregnancy |
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832
One Index
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LopezโGonzalez, Vanesa PhD |
45 docs (2012 - 2023)
Haploinsufficiency , Human genetics , Assisted Reproductive Technology , Breakpoint , Sanger sequencing |
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821
One Index
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Tawfeg PhD 0000-0001-8522-7738 |
100 docs (2005 - 2024)
Homocystinuria , Inborn Errors of Metabolism , Spinal Muscular Atrophy , Disease gene identification , Exome Sequencing |
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821
One Index
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Girisha, Katta PhD 0000-0002-0139-8239 |
329 docs (2003 - 2024)
Microcephaly , Proband , Exome , Sanger sequencing , Compound heterozygosity |
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816
One Index
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Moss, Celia PhD 0000-0003-1773-4011 |
243 docs (1946 - 2024)
Epidermolysis Bullosa , Skin Sensitization , Epidermolysis bullosa simplex , Epidermal Nevus Syndromes , Newcastle upon tyne |
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809
One Index
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Alanay, Yasemin PhD 0000-0003-0683-9731 |
202 docs (2001 - 2024)
Achondroplasia , Smooth Muscle Alpha-Actin Mutations , Trisomy Detection , Microcephaly , Osteogenesis Imperfecta |
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809
One Index
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Shah, Hitesh PhD 0000-0002-2940-3108 |
201 docs (2000 - 2024)
Legg-Calve-Perthes disease , Limb Reconstruction , Hip Joint Mechanics , Foot (prosody) , Limp |
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809
One Index
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Kaya Akca, รmmรผลen PhD 0000-0002-0426-9432 |
76 docs (2019 - 2024)
MEFV , Tocilizumab , Imaging in Vasculitis , Multisystem Inflammatory Syndrome , Non-Bacterial Osteomyelitis |
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793
One Index
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Matthijs, Gert PhD 0000-0001-6710-1912 |
703 docs (1971 - 2024)
Glycosylation , Protein Glycosylation , Glycosylation Mechanisms , Patent Analysis , Compound heterozygosity |
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785
One Index
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Nuria Garcia Segarra |
13 docs (2010 - 2022)
Tyrosinemia , Inborn Errors of Metabolism , Hypophosphatemia , Liver disease , Myoglobinuria |
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785
One Index
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Kurolap, Alina PhD 0000-0002-7005-3621 |
64 docs (2013 - 2024)
Microcephaly , Exome , Loss function , Eculizumab , Gaucher Disease |
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784
One Index
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Di Rocco, Maja PhD 0000-0001-9677-880X |
237 docs (1981 - 2024)
Gaucher Disease , Fibrodysplasia Ossificans Progressiva , Lysosomal Storage Disorders , Diffuse Pulmonary Ossification , Glycogen Storage Diseases |
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784
One Index
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Sag, Erdal PhD 0000-0002-6542-2656 |
109 docs (2010 - 2024)
Juvenile Idiopathic Arthritis , Systemic-onset Juvenile Idiopathic Arthritis , Juvenile Dermatomyositis , Imaging in Vasculitis , Pathogenesis |
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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 |
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771
One Index
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Upton, Joseph PhD 0000-0002-3852-4171 |
329 docs (1930 - 2024)
Microsurgical Reconstruction , Vascular Malformations , Syndactyly , Limb Malformations , Wide Awake Hand Surgery |
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763
One Index
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Emad , Yasser PhD 0000-0003-2050-3847 |
94 docs (2006 - 2024)
Rheumatoid factor , MRI Imaging , Systemic-onset Juvenile Idiopathic Arthritis , Imaging in Vasculitis , Spondyloarthropathy |
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760
One Index
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Baraitser, Michael PhD |
279 docs (1969 - 2019)
Microcephaly , Hypertelorism , Polydactyly , Syndactyly , Prenatal Diagnosis |
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754
One Index
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Keelagher, Rebecca PhD |
10 docs (2019 - 2024)
Fetal DNA Analysis , Prenatal Diagnosis , Trisomy Detection , Exome , Maternal Plasma DNA Sequencing |
