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3,299 authors found
quering by "Hypertelorism"
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the first 25
sort by ONE Index.
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913
One Index
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Wilkie, Andrew PhD 0000-0002-2972-5481 |
432 docs (1982 - 2024)
Craniosynostosis , Haploinsufficiency , Apert syndrome , Medical genetics , Craniosynostoses |
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898
One Index
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Margaret Horton Harr PhD |
52 docs (2014 - 2024)
Genetic Testing , Precision Medicine , Medical genetics , Haploinsufficiency , Clinical Genomics |
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896
One Index
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de Vries, Bert PhD 0000-0002-0000-2917 |
254 docs (1992 - 2024)
Haploinsufficiency , Microcephaly , Comparative genomic hybridization , Autism , Phenotype Analysis |
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886
One Index
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Francke, Uta PhD |
622 docs (1971 - 2024)
Southern blot , Fibrillin , Marfan Syndrome , Breakpoint , Gene Expression |
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884
One Index
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Lees, Melissa PhD 0000-0003-0287-4134 |
429 docs (1986 - 2024)
Proband , Haploinsufficiency , Exome , Loss function , Exome Sequencing |
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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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876
One Index
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Wieczorek, Dagmar PhD 0000-0003-2812-6492 |
317 docs (1991 - 2024)
Microcephaly , Haploinsufficiency , Loss function , Exome , Human genetics |
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874
One Index
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Zweier, Christiane PhD 0000-0001-8002-2020 |
250 docs (2002 - 2024)
Haploinsufficiency , Microcephaly , Brain Development , Neurodevelopmental disorder , Exome |
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869
One Index
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Rauch, Anita PhD 0000-0003-2930-3163 |
358 docs (1964 - 2024)
Haploinsufficiency , Microcephaly , Exome , Brain Development , Exome Sequencing |
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868
One Index
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Dietz, Harry PhD 0000-0002-6856-0165 |
381 docs (1952 - 2024)
Marfan Syndrome , Fibrillin , Aortic Dissection , Aortic Root Replacement , Aortic Aneurysms |
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867
One Index
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Hennekam, Raoul PhD 0000-0002-6745-1522 |
833 docs (1976 - 2024)
Rubinstein–Taybi syndrome , Microcephaly , Etiology , Medical genetics , Hypertelorism |
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864
One Index
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Benacerraf, Beryl PhD 0000-0002-0177-7626 |
431 docs (1949 - 2023)
Prenatal Diagnosis , Fetal DNA Analysis , Trisomy Detection , Amniocentesis , Fetal MRI |
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861
One Index
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Tan, Tiong Yang PhD 0000-0001-8455-7778 |
170 docs (2005 - 2024)
Exome Sequencing , Exome , Haploinsufficiency , Proband , Clinical Genomics |
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860
One Index
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Yu, Mullin Ho-Chung PhD 0000-0002-3017-0807 |
30 docs (2018 - 2023)
Exome , Exome Sequencing , Founder effect , Medical genetics , Neurodevelopmental disorder |
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857
One Index
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Reardon, Willie PhD 0000-0001-7329-9179 |
342 docs (1955 - 2023)
Medical genetics , Craniosynostosis , Microcephaly , Hearing Loss , Haploinsufficiency |
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855
One Index
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Bhoj, Elizabeth PhD 0000-0001-5748-3507 |
149 docs (2008 - 2024)
Haploinsufficiency , Exome , Loss function , Neurodevelopmental disorder , Microcephaly |
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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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846
One Index
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Colonel William D. James PhD 0009-0007-6006-0856 |
931 docs (1822 - 2024)
Treatment , Isotretinoin , Propionibacterium Acnes , Tretinoin , Skin Microbiome |
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845
One Index
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Megarbane, andre PhD 0000-0003-0714-2469 |
465 docs (1955 - 2024)
Microcephaly , MEFV , Disease gene identification , Compound heterozygosity , Ciliopathies |
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844
One Index
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Cogné, Benjamin PhD 0000-0002-5503-6292 |
140 docs (2013 - 2024)
Haploinsufficiency , Neurodevelopmental disorder , Loss function , Brain Development , Microcephaly |
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843
One Index
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Robin M. Winter PhD |
288 docs (1973 - 2022)
Prenatal Diagnosis , Genetic linkage , Microcephaly , Craniosynostosis , Syndactyly |
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842
One Index
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Reynolds, James PhD 0000-0003-2367-879X |
1032 docs (1906 - 2024)
Trisomy Detection , Fragile X Syndrome , Fetal DNA Analysis , Trisomy , Microcephaly |
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839
One Index
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Callewaert, Bert PhD 0000-0002-9743-4205 |
306 docs (1989 - 2024)
Cutis laxa , Smooth Muscle Alpha-Actin Mutations , Proband , Tortuosity , Aortic Aneurysms |
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839
One Index
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Slavotinek, Anne PhD 0000-0001-7053-2449 |
363 docs (1990 - 2024)
Haploinsufficiency , Exome , Proband , Exome Sequencing , Polydactyly |
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836
One Index
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A. Kors Jan |
2 docs (2024 - 2024)
Hypertelorism , Levothyroxine , Aspiration Pneumonia , Pulmonology , Noonan Syndrome |
