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Bennett, Mark F
7146  Ergebnisse:
Personensuche X
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1

SCN8A self‐limited infantile epilepsy: Does epilepsy resolv..:

Young, Emma ; Harris, Rebekah ; Lieffering, Nico...
Epilepsia.  65 (2024)  8 - p. , 2024
Link: https://doi.org/10.1111/..
 
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2

Experience of the first adult-focussed undiagnosed disease ..:

Wallis, Mathew ; Bodek, Simon D. ; Munro, Jacob...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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3

Leveraging multiple approaches for the detection of pathoge..:

Nyaga, Denis M. ; Hildebrand, Michael S. ; de Valles‐Ibáñez, Guillem...
Epilepsia Open.  9 (2024)  2 - p. 758-764 , 2024
Link: https://doi.org/10.1002/..
 
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4

Improving genetic diagnostic yield in a large cohort of chi..:

Green, Timothy E. ; Garza, Denisse ; Brown, Natasha J....
Genetics in Medicine Open.  2 (2024)  - p. 100837 , 2024
Link: https://doi.org/10.1016/..
 
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5

Correction: Genetic aetiologies for childhood speech disord..:

Kaspi, Antony ; Hildebrand, Michael S. ; Jackson, Victoria E....
Molecular Psychiatry.  28 (2023)  4 - p. 1664-1666 , 2023
Link: https://doi.org/10.1038/..
 
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6

Genes4Epilepsy: An epilepsy gene resource:

Oliver, Karen L. ; Scheffer, Ingrid E. ; Bennett, Mark F....
Epilepsia.  64 (2023)  5 - p. 1368-1375 , 2023
Link: https://doi.org/10.1111/..
 
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7

An intronic GAA repeat expansion in FGF14 causes the autoso..:

Rafehi, Haloom ; Read, Justin ; Szmulewicz, David J....
The American Journal of Human Genetics.  110 (2023)  1 - p. 105-119 , 2023
Link: https://doi.org/10.1016/..
 
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8

An intronic GAA repeat expansion in FGF14 causes the autoso..:

Rafehi, Haloom ; Read, Justin ; Szmulewicz, David J....
The American Journal of Human Genetics.  110 (2023)  6 - p. 1018 , 2023
Link: https://doi.org/10.1016/..
 
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9

Pentanucleotide repeat‐related disorders: Genetics and bioi..:

Silveira, Isabel ; Bennett, Mark F.
Epilepsia.  64 (2023)  S1 - p. , 2023
Link: https://doi.org/10.1111/..
 
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10

Stuttering associated with a pathogenic variant in the chap..:

Morgan, Angela T ; Scerri, Thomas S ; Vogel, Adam P...
Brain.  146 (2023)  12 - p. 5086-5097 , 2023
Link: https://doi.org/10.1093/..
 
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11

Detection and discovery of repeat expansions in ataxia enab..:

Rafehi, Haloom ; Bennett, Mark F. ; Bahlo, Melanie.
Emerging Topics in Life Sciences.  7 (2023)  3 - p. 349-359 , 2023
Link: https://doi.org/10.1042/..
 
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12

Exploring THAP11 Repeat Expansion beyond Chinese‐Ancestry C..:

Fearnley, Liam G. ; Rafehi, Haloom ; Bennett, Mark F..
Movement Disorders.  38 (2023)  12 - p. 2320-2322 , 2023
Link: https://doi.org/10.1002/..
 
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13

Mosaic variants detectable in blood extend the clinicogenet..:

Green, Timothy E. ; Bennett, Mark F. ; Immisch, Ilka...
Genetics in Medicine Open.  1 (2023)  1 - p. 100810 , 2023
Link: https://doi.org/10.1016/..
 
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14

REViewer: haplotype-resolved visualization of read alignmen..:

Dolzhenko, Egor ; Weisburd, Ben ; Ibañez, Kristina...
Genome Medicine.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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15

Somatic Mosaic Pathogenic Variant Gradient Detected in Trac..:

Ye, Zimeng ; Bennett, Mark F. ; Neal, Andrew...
Neurology.  99 (2022)  23 - p. 1036-1041 , 2022
Link: https://doi.org/10.1212/..
 
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