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785 authors found
quering by "Pachygyria"
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the first 25
sort by ONE Index.
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928
One Index
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Gleeson, Jo PhD 0000-0002-0889-9220 |
277 docs (1982 - 2024)
Microcephaly , Doublecortin , Joubert syndrome , Brain Development , Ciliopathy |
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904
One Index
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Järvelä, Irma PhD 0000-0002-1770-6187 |
294 docs (1989 - 2024)
Autism , Lactase , Neuronal Ceroid Lipofuscinoses , Batten disease , Neuronal ceroid lipofuscinosis |
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891
One Index
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Sarah L. King‐Smith |
22 docs (2020 - 2024)
RUNX1 , GATA2 , Fetal DNA Analysis , Preimplantation Genetic Diagnosis , Prenatal Diagnosis |
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881
One Index
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Dobyns, William PhD 0000-0002-7681-2844 |
600 docs (1979 - 2024)
Polymicrogyria , Microcephaly , Cerebellar Malformations , Pachygyria , Brain Development |
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877
One Index
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van Bokhoven, J.H.L.M. (Hans) PhD 0000-0002-2153-9254 |
643 docs (1967 - 2024)
Microcephaly , Haploinsufficiency , Nijmegen breakage syndrome , Fragile X Syndrome , Autism |
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874
One Index
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Ledbetter, David H. PhD 0000-0001-8934-4210 |
510 docs (1976 - 2024)
Trisomy Detection , Prader-Willi Syndrome , Uniparental disomy , Breakpoint , Cosmid |
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872
One Index
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Oegema, Renske PhD 0000-0002-7146-617X |
65 docs (2010 - 2024)
Polymicrogyria , Neurodevelopmental disorder , Cerebellar Malformations , Haploinsufficiency , Loss function |
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870
One Index
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Mirzaa, Ghayda PhD 0000-0003-2648-7657 |
172 docs (2004 - 2024)
Megalencephaly , Microcephaly , Polymicrogyria , Neurodevelopmental disorder , Brain Development |
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861
One Index
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Aldinger, Kimberly PhD 0000-0002-5406-8911 |
109 docs (2004 - 2024)
Cerebellar Malformations , Autism , Cerebral Development , Neurodevelopmental disorder , Microcephaly |
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860
One Index
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Bilguvar, Kaya PhD 0000-0002-7313-7652 |
208 docs (2005 - 2024)
Exome , Proband , Microcephaly , Turkish population , Variation (astronomy) |
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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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852
One Index
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Bahi-Buisson, Nadia PhD 0000-0002-5352-0929 |
248 docs (2003 - 2024)
Microcephaly , Rett syndrome , Polymicrogyria , Brain Development , Epilepsy |
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849
One Index
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Di Donato, Nataliya PhD 0000-0001-9439-4677 |
134 docs (2008 - 2024)
Microcephaly , Cofilin , Exome , Actin remodeling , Exome Sequencing |
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845
One Index
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Leventer, Richard PhD 0000-0003-0362-5607 |
239 docs (1994 - 2024)
Polymicrogyria , Cerebellar Malformations , Corpus Callosum Agenesis , Neurosonography , Pachygyria |
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828
One Index
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Chelly, Jamel PhD 0000-0002-0939-8719 |
243 docs (1978 - 2022)
Doublecortin , Microcephaly , Polymicrogyria , Dystrophin , Pachygyria |
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818
One Index
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Andermann, Erich PhD |
312 docs (1969 - 2023)
Epilepsy , Progressive myoclonus epilepsy , Polymicrogyria , Genetic linkage , Proband |
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806
One Index
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Reiner, Orly PhD 0000-0001-7560-9599 |
160 docs (1986 - 2024)
Doublecortin , Organoid , Brain Development , Cortical Development , Human brain |
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805
One Index
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Palmini, Andre PhD 0000-0002-4163-6924 |
177 docs (1988 - 2024)
Epilepsy , Status Epilepticus , Hippocampal sclerosis , Seizures , Epilepsy Detection |
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805
One Index
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Mei, Davide PhD 0000-0001-6790-6251 |
139 docs (2001 - 2024)
Dravet syndrome , Epilepsy , Exome Sequencing , Epilepsy syndromes , Myoclonic epilepsy |
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804
One Index
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Das, Soma PhD 0000-0003-0387-6801 |
216 docs (1970 - 2024)
UGT1A1 Gene , Glucuronosyltransferase , Microcephaly , UGT2B7 , Biomarker Analysis |
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803
One Index
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Blue, Elizabeth PhD 0000-0002-0633-0305 |
184 docs (1991 - 2024)
Genome-wide association study , Genetic association , Exome , Candidate gene , Pedigree chart |
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802
One Index
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Hehr, Ute PhD 0000-0002-7746-4474 |
177 docs (1999 - 2024)
Congenital muscular dystrophy , Microcephaly , Hereditary Spastic Paraplegia , Prenatal Diagnosis , Skeletal Muscle Atrophy |
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800
One Index
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Francis, Fiona PhD 0000-0001-8542-7537 |
138 docs (1993 - 2024)
Doublecortin , Cortical Development , Neurogenesis , Cosmid , Brain Development |
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798
One Index
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Guerrini, Renzo PhD 0000-0002-7272-7079 |
2008 docs (1977 - 2024)
Epilepsy , Status Epilepticus , Antiepileptic Drugs , Dravet syndrome , Polymicrogyria |
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794
One Index
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Kato, Mitsuhiro PhD 0000-0003-1485-8553 |
349 docs (1982 - 2024)
Microcephaly , West Syndrome , Polymicrogyria , Brain Development , Compound heterozygosity |
