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Benke, Paul J.
285
results:
Search for persons
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Format
Online (285)
Mediatypes
Articles (Online) (119)
Bookchapter (Online) (4)
OpenAccess-fulltext (162)
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english (248)
german (1)
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1
P348: De novo missense variants in ZBTB47 cause a neurodeve..:
Ward, Scott
;
Burrage, Lindsay
;
Rosenfeld, Jill
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100376 , 2023
Link:
https://doi.org/10.1016/..
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2
De novo missense variants in ZBTB47 are associated with dev..:
Ward, Scott K.
;
Wadley, Alexandrea
;
Tsai, Chun‐hui (Anne)
...
American Journal of Medical Genetics Part A. 194 (2023) 1 - p. 17-30 , 2023
Link:
https://doi.org/10.1002/..
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3
HNRNPC haploinsufficiency affects alternative splicing of i..:
Niggl, Eva
;
Bouman, Arjan
;
Briere, Lauren C.
...
The American Journal of Human Genetics. 110 (2023) 8 - p. 1414-1435 , 2023
Link:
https://doi.org/10.1016/..
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4
An Integrated Phenotypic and Genotypic Approach Reveals a H..:
Deisseroth, Cole A.
;
Lerma, Vanesa C.
;
Magyar, Christina L.
...
Annals of Neurology. 92 (2022) 1 - p. 138-153 , 2022
Link:
https://doi.org/10.1002/..
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5
Genotype–phenotype correlations and novel molecular insight..:
Mannucci, Ilaria
;
Dang, Nghi D. P.
;
Huber, Hannes
...
Genome Medicine. 13 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1186/..
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6
Integrated deep phenotypic and mutational approach defines ..:
Deisseroth, Cole
;
Nayak, Aarushi
;
Bliss, Nathan
...
Neurology. 96 (2021) 15_supplement - p. , 2021
Link:
https://doi.org/10.1212/..
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7
Novel variants in KAT6B spectrum of disorders expand our kn..:
Yabumoto, Megan
;
Kianmahd, Jessica
;
Singh, Meghna
...
Molecular Genetics & Genomic Medicine. 9 (2021) 10 - p. , 2021
Link:
https://doi.org/10.1002/..
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8
Analyses of oligodontia phenotypes and genetic etiologies:
Zhou, Mengqi
;
Zhang, Hong
;
Camhi, Heather
...
International Journal of Oral Science. 13 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/..
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9
The clinical and molecular spectrum ofQRICH1associated neur..:
Kumble, Smitha
;
Levy, Amanda M.
;
Punetha, Jaya
...
Human Mutation. 43 (2021) 2 - p. 266-282 , 2021
Link:
https://doi.org/10.1002/..
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10
Correction: Analyses of oligodontia phenotypes and genetic ..:
Zhou, Mengqi
;
Zhang, Hong
;
Camhi, Heather
...
International Journal of Oral Science. 13 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/..
?
11
De novo variants in MPP5 cause global developmental delay a..:
Sterling, Noelle
;
Duncan, Anna R
;
Park, Raehee
...
Human Molecular Genetics. 29 (2020) 20 - p. 3388-3401 , 2020
Link:
https://doi.org/10.1093/..
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12
Novel mutations in the mitochondrial complex I assembly gen..:
Simon, Mariella T.
;
Eftekharian, Shaya S.
;
Stover, Alexander E.
...
Molecular Genetics and Metabolism. 126 (2019) 1 - p. 53-63 , 2019
Link:
https://doi.org/10.1016/..
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13
Monosomy chromosome 21 compensated by 21q22.11q22.3 duplica..:
Su, Meng
;
Benke, Paul J.
;
Bademci, Guney
...
Molecular Cytogenetics. 11 (2018) 1 - p. , 2018
Link:
https://doi.org/10.1186/..
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14
Disturbed phospholipid metabolism in serine biosynthesis de..:
Glinton, Kevin E.
;
Benke, Paul J.
;
Lines, Matthew A.
...
Molecular Genetics and Metabolism. 123 (2018) 3 - p. 309-316 , 2018
Link:
https://doi.org/10.1016/..
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15
Biotin and Acetazolamide for Treatment of an Unusual Child ..:
Benke, Paul J.
;
Duchowny, Michael
;
McKnight, Dianalee
Pediatric Neurology. 79 (2018) - p. 61-64 , 2018
Link:
https://doi.org/10.1016/..
1-15