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Daan M. Panneman
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1

Towards Uncovering the Role of Incomplete Penetrance in Mac..:

Hitti-Malin, Rebekkah J. ; Panneman, Daan M. ; Corradi, Zelia...
Biomolecules.  14 (2024)  3 - p. 367 , 2024
Link: https://doi.org/10.3390/..
 
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2

Cost‐effective smMIPs‐based sequencing to provide a genetic..:

Panneman, Daan M. ; Hitti‐Malin, Rebekkah J. ; Roosing, Susanne.
Acta Ophthalmologica.  102 (2024)  S279 - p. , 2024
Link: https://doi.org/10.1111/..
 
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3

Next-generation sequencing to genetically diagnose a divers..:

Basharat, Rabia ; de Bruijn, Suzanne E. ; Zahid, Muhammad...
Experimental Eye Research.  244 (2024)  - p. 109945 , 2024
Link: https://doi.org/10.1016/..
 
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4

Effective smMIPs-Based Sequencing of Maculopathy-Associated..:

Mc Clinton, Benjamin ; Corradi, Zelia ; McKibbin, Martin...
Genes.  14 (2023)  1 - p. 191 , 2023
Link: https://doi.org/10.3390/..
 
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5

In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals A..:

Conte, Federica ; Ashikov, Angel ; Mijdam, Rachel...
International Journal of Molecular Sciences.  24 (2023)  9 - p. 8247 , 2023
Link: https://doi.org/10.3390/..
 
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6

Cost-effective sequence analysis of 113 genes in 1,192 prob..:

Panneman, Daan M. ; Hitti-Malin, Rebekkah J. ; Holtes, Lara K....
Frontiers in Cell and Developmental Biology.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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7

Using single molecule Molecular Inversion Probes as a cost‐..:

Hitti‐Malin, Rebekkah J. ; Dhaenens, Claire‐Marie ; Panneman, Daan M....
Human Mutation.  43 (2022)  12 - p. 2234-2250 , 2022
Link: https://doi.org/10.1002/..
 
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8

Reduced ech-6 expression attenuates fat-induced lifespan sh..:

Liu, Yasmine J. ; Gao, Arwen W. ; Smith, Reuben L....
Scientific Reports.  12 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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9

Soluble adenylyl cyclase regulates the cytosolic NADH/NAD+ ..:

Chang, Jung-Chin ; Go, Simei ; Gilglioni, Eduardo H....
Biochimica et Biophysica Acta (BBA) - Bioenergetics.  1862 (2021)  4 - p. 148367 , 2021
Link: https://doi.org/10.1016/..
 
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10

Variants in NGLY1 lead to intellectual disability, myoclonu..:

Panneman, Daan M. ; Wortmann, Saskia B. ; Haaxma, Charlotte A....
Clinical Genetics.  97 (2020)  4 - p. 556-566 , 2020
Link: https://doi.org/10.1111/..
 
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11

Autosomal Recessive Rod–Cone Dystrophy with Mild Extra-Ocul..:

Deitch, Iris ; Itskov, Sofia ; Panneman, Daan...
Current Issues in Molecular Biology.  46 (2024)  3 - p. 2566-2575 , 2024
Link: https://doi.org/10.3390/..
 
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12

Table9_Cost-effective sequence analysis of 113 genes in 1,1..:

Daan M. Panneman ; Rebekkah J. Hitti-Malin ; Lara K. Holtes...
doi:10.3389/fcell.2023.1112270.s010.  , 2023
Link: https://doi.org/10.3389/..
 
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13

Table7_Cost-effective sequence analysis of 113 genes in 1,1..:

Daan M. Panneman ; Rebekkah J. Hitti-Malin ; Lara K. Holtes...
doi:10.3389/fcell.2023.1112270.s008.  , 2023
Link: https://doi.org/10.3389/..
 
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14

Table6_Cost-effective sequence analysis of 113 genes in 1,1..:

Daan M. Panneman ; Rebekkah J. Hitti-Malin ; Lara K. Holtes...
doi:10.3389/fcell.2023.1112270.s007.  , 2023
Link: https://doi.org/10.3389/..
 
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15

In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals A..:

Federica Conte ; Angel Ashikov ; Rachel Mijdam...
Molecular Genetics and Genomics.  , 2023
Link: https://doi.org/10.3390/..
 
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