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5,027 authors found
quering by "Polydactyly"
.
Showing
the first 25
sort by ONE Index.
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905
One Index
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Bamshad, Michael PhD 0000-0002-9647-0861 |
507 docs (1989 - 2024)
Exome , Exome Sequencing , Mendelian inheritance , Sanger sequencing , Proband |
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905
One Index
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PhD 0000-0002-0197-3811 |
511 docs (1987 - 2024)
Proteus syndrome , Genetic Testing , Exome , Exome Sequencing , Medical genetics |
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904
One Index
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Leal, Suzanne M. PhD 0000-0003-1231-8174 |
365 docs (1990 - 2024)
Genetic linkage , Exome , Genetic association , Sanger sequencing , Genome-wide association study |
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901
One Index
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Clayton-Smith, Jill PhD 0000-0002-9602-2321 |
371 docs (1988 - 2024)
Haploinsufficiency , Angelman Syndrome , Maternal Epilepsy , Antiepileptic Drugs , Microcephaly |
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898
One Index
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Zhang, Ya-Ping PhD 0000-0002-5401-1114 |
741 docs (1991 - 2024)
Phylogenetic Analysis , Haplogroup , Lineage (genetic) , Monophyly , Canine Genetics |
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897
One Index
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Valente, Enza Maria PhD 0000-0002-0600-6820 |
447 docs (1980 - 2024)
Joubert syndrome , PINK1 , Ciliopathy , Ciliopathies , Parkinson's Disease |
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890
One Index
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Katsanis, Nicholas PhD 0000-0002-2480-0171 |
409 docs (1995 - 2024)
Ciliopathy , Ciliopathies , Bardet–Biedl Syndrome , Ciliogenesis , Intraflagellar transport |
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888
One Index
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Mohamad, Balqees 0000-0001-5708-6405 |
17 docs (2021 - 2024)
Cross-sectional study , Biostatistics , Colorectal Cancer , Breast Cancer Screening , Causation |
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888
One Index
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Bansal, Pradeep PhD 0000-0002-0972-2427 |
218 docs (1980 - 2024)
Heat Exchangers , Heat Transfer , Convective Heat Transfer , Condenser (optics) , CO2 Heat Pumps |
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887
One Index
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Niema A. Ibrahim PhD |
46 docs (2013 - 2020)
Ciliopathies , Mendelian inheritance , Exome , Human genetics , Table (database) |
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884
One Index
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Sergushichev, Alexey PhD 0000-0003-1159-7220 |
88 docs (2011 - 2024)
Subnetwork , Metabolism , Biological Network Integration , Gene Set Enrichment Analysis , Genomic Data Integration |
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879
One Index
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Faivre, Laurence PhD 0000-0001-9770-444X |
643 docs (1998 - 2024)
Microcephaly , Haploinsufficiency , Proband , Exome Sequencing , Exome |
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878
One Index
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Muenke, Maximilian PhD 0000-0002-7719-6545 |
400 docs (1990 - 2024)
Forebrain , Hedgehog Signaling , Craniosynostosis , ADHD , Attention-Deficit/Hyperactivity Disorder |
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878
One Index
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Scambler, Peter PhD 0000-0002-1487-4628 |
399 docs (1983 - 2024)
DiGeorge syndrome , Haploinsufficiency , TBX1 , Endothelial Cell-Lineage Analysis , Congenital Heart Defects |
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877
One Index
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Mundlos, Stefan PhD 0000-0002-9788-3166 |
662 docs (1986 - 2024)
Brachydactyly , Limb Malformations , Polydactyly , Cutis laxa , Syndactyly |
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869
One Index
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Lyonnet, Stanislas PhD 0000-0001-5426-9417 |
679 docs (1934 - 2024)
Hirschsprung Disease , Hirschsprung's disease , Inborn Errors of Metabolism , RET Gene , Microcephaly |
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869
One Index
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Schmidts, Miriam PhD 0000-0002-1714-6749 |
126 docs (2003 - 2024)
Ciliopathy , Ciliogenesis , Ciliopathies , Primary Ciliary Dyskinesia , Motile cilium |
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869
One Index
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Alfadhel, Majid PhD 0000-0002-9427-7240 |
240 docs (2007 - 2024)
Inborn Errors of Metabolism , Exome , Sanger sequencing , Microcephaly , Compound heterozygosity |
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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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866
One Index
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Family Name Deactivated, Given Names Deactivated PhD 0000-0002-6713-8018 |
110 docs (1998 - 2024)
Joubert syndrome , Microcephaly , Ciliopathies , Ciliopathy , Somatic Mutations |
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864
One Index
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Horn, Denise PhD 0000-0003-0870-8911 |
341 docs (1979 - 2024)
Microcephaly , Polydactyly , Brachydactyly , Limb Malformations , Haploinsufficiency |
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862
One Index
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Salpietro, Vincenzo PhD 0000-0003-0132-7921 |
603 docs (1907 - 2024)
Aldosterone , Cardiac Remodeling , Primary Aldosteronism , Microcephaly , Hypertension |
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860
One Index
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Woods, Christopher PhD 0000-0002-8077-2101 |
200 docs (1969 - 2024)
Microcephaly , Pain Modulation , Nociceptor , Brain Development , Medical genetics |
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859
One Index
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Krakow, Deborah PhD 0000-0001-9906-4968 |
291 docs (1983 - 2024)
Osteogenesis Imperfecta , FLNA , Fetal DNA Analysis , Polydactyly , Smooth Muscle Alpha-Actin Mutations |
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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 |
