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15,064 authors found
quering by "Nonsense mutation"
.
Showing
the first 25
sort by ONE Index.
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934
One Index
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Antonarakis, Stylianos PhD 0000-0001-8907-5823 |
876 docs (1982 - 2024)
Trisomy , Genetic linkage , Factor VIII , Trisomy Detection , Chromosome 21 |
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924
One Index
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Farooqi, Ismaa Sadaf PhD 0000-0001-7609-3504 |
398 docs (1991 - 2024)
Obesity , Leptin , Melanocortin 4 receptor , Metabolic Regulation , Melanocortin System |
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922
One Index
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Habibzadeh, Parham PhD 0000-0002-2086-0425 |
86 docs (2013 - 2024)
2019-20 coronavirus outbreak , Acid-Base Balance , Pandemic , Hereditary Spastic Paraplegia , Acetazolamide |
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917
One Index
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Supek, Fran PhD 0000-0002-7811-6711 |
105 docs (2004 - 2024)
Cancer Genomics , Tumor Evolution , genome annotation , Mutational Signatures , Phyletic gradualism |
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916
One Index
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Onoufriadis, Alexandros PhD 0000-0001-5026-0431 |
100 docs (2010 - 2024)
Primary Ciliary Dyskinesia , Motile cilium , Ciliogenesis , Genome-wide association study , Psoriasis |
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914
One Index
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Vinuesa, Carola PhD 0000-0001-9799-0298 |
182 docs (1986 - 2024)
Memory T Cells , T Cell Immunity , Affinity maturation , CXCR5 , Follicular dendritic cells |
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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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909
One Index
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Peyvandi, Flora PhD 0000-0001-7423-9864 |
1006 docs (1990 - 2024)
ADAMTS13 , Factor VIII , von Willebrand Disease , Hemophilia , Clotting factor |
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908
One Index
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Estivill, Xavier PhD 0000-0002-0723-2256 |
860 docs (1983 - 2024)
Genome-wide association study , Cystic Fibrosis , Genetic association , Cancer Genomics , Anorexia nervosa |
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905
One Index
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Bousfiha, Ahmed Aziz PhD 0000-0002-5011-9873 |
193 docs (1996 - 2024)
Human Inborn Errors , Primary immunodeficiency , Interferon-? Pathway Defects , Medical microbiology , B Cell Abnormalities |
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905
One Index
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Gao, Fen-Biao PhD 0000-0001-8873-5404 |
160 docs (1993 - 2024)
C9orf72 , Neurodegeneration , ESCRT , Haploinsufficiency , Motor Neuron |
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905
One Index
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Goldberg, Alfred PhD 0000-0002-8319-5856 |
495 docs (1917 - 2024)
Proteolysis , Protein Degradation , Proteasome , Protein degradation , Protein Folding |
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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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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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902
One Index
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Dahl, Niklas PhD 0000-0002-8122-0800 |
432 docs (1987 - 2024)
Breast Cancer , cancer susceptibility , Diamond–Blackfan anemia , Cancer Risk , BRCA1 |
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901
One Index
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Alkuraya, Fowzan PhD 0000-0003-4158-341X |
672 docs (2001 - 2024)
Microcephaly , Exome , Mendelian inheritance , Human genetics , Ciliopathy |
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899
One Index
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Kulozik, Andreas PhD 0000-0003-1953-0848 |
422 docs (1982 - 2024)
CpG site , T Cell Therapy , Nonsense-mediated decay , Transfusion Therapy , mRNA modification |
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898
One Index
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Sue, Carolyn PhD 0000-0003-1255-3617 |
347 docs (1985 - 2024)
Mitochondrial Dysfunction , Mitochondrial disease , Mitochondrial Function , Mitochondria , Hereditary Spastic Paraplegia |
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898
One Index
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Duga, Stefano PhD 0000-0003-3457-1410 |
347 docs (1996 - 2023)
Fibrinogen , Afibrinogenemia , Factor V Leiden , Exome , Hypofibrinogenemia |
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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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895
One Index
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Brunner, Han PhD 0000-0001-9274-8865 |
471 docs (1965 - 2024)
Exome , Exome Sequencing , Haploinsufficiency , Microcephaly , Dilated Cardiomyopathy |
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895
One Index
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Gasparini, Paolo PhD 0000-0002-0859-0856 |
731 docs (1962 - 2024)
Genome-wide association study , Genetic association , Hearing Loss , Hemochromatosis , SNP |
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895
One Index
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Akawi, Nadia PhD 0000-0001-6311-7028 |
128 docs (2007 - 2024)
Exome , Exome Sequencing , Amplicon , Proband , Macrocephaly |
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894
One Index
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King, Mary-Claire PhD 0000-0001-9426-1743 |
443 docs (1968 - 2024)
Breast Cancer , cancer susceptibility , Cancer Risk , BRCA1 , Genetic Testing |
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894
One Index
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Hoischen, Alexander PhD 0000-0002-8072-4476 |
394 docs (2002 - 2024)
Exome , Exome Sequencing , Proband , Sanger sequencing , Comparative genomic hybridization |
