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Falk, Marni J.
273  Ergebnisse:
Personensuche X
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1

Kagami Ogata syndrome: a small deletion refines critical re..:

Kilich, Gonench ; Hassey, Kelly ; Behrens, Edward M....
npj Genomic Medicine.  9 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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2

MSeqDR Quick‐Mitome (QM): Combining Phenotype‐Guided Varian..:

Shen, Lishuang ; Falk, Marni J. ; Gai, Xiaowu
Current Protocols.  4 (2024)  1 - p. , 2024
Link: https://doi.org/10.1002/..
 
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3

Expanding the Spectrum of Congenital Myopathy Linked to Var..:

Lanvin, Pierre-Louis ; Li, Dong ; Conrad, Solène...
Neurology Clinical Practice.  14 (2024)  3 - p. , 2024
Link: https://doi.org/10.1212/..
 
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4

Bridging the clinical-research gap: Harnessing an electroni..:

MacMullen, Laura E. ; George-Sankoh, Ibrahim ; Stanley, Katelynn...
Molecular Genetics and Metabolism.  142 (2024)  1 - p. 108348 , 2024
Link: https://doi.org/10.1016/..
 
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5

P870: Racial disparity in the diagnosis of mitochondrial di..:

McGinn, Daniel ; Muraresku, Colleen ; Valverde, Kathleen..
Genetics in Medicine Open.  2 (2024)  - p. 101784 , 2024
Link: https://doi.org/10.1016/..
 
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6

N-acetylcysteine and cysteamine bitartrate prevent azide-in..:

Haroon, Suraiya ; Yoon, Heeyong ; Seiler, Christoph...
Human Molecular Genetics.  32 (2023)  12 - p. 1988-2004 , 2023
Link: https://doi.org/10.1093/..
 
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7

Expert Panel Curation of 113 Primary Mitochondrial Disease ..:

McCormick, Elizabeth M. ; Keller, Kierstin ; Taylor, Julie P....
Annals of Neurology.  94 (2023)  4 - p. 696-712 , 2023
Link: https://doi.org/10.1002/..
 
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8

P581: Multiple mitochondrial DNA deletions in patients with..:

Wang, Jing ; Chan, Ada ; Peterson, James...
Genetics in Medicine Open.  1 (2023)  1 - p. 100628 , 2023
Link: https://doi.org/10.1016/..
 
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9

258th ENMC international workshop Leigh syndrome spectrum: ..:

Diodato, Daria ; Schiff, Manuel ; Cohen, Bruce H....
Neuromuscular Disorders.  33 (2023)  8 - p. 700-709 , 2023
Link: https://doi.org/10.1016/..
 
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10

Efficacy and Safety of Elamipretide in Individuals With Pri..:

Karaa, Amel ; Bertini, Enrico ; Carelli, Valerio...
Neurology.  101 (2023)  3 - p. , 2023
Link: https://doi.org/10.1212/..
 
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11

Optimized Nutrition in Mitochondrial Disease Correlates to ..:

DiVito, Donna ; Wellik, Amanda ; Burfield, Jessica...
Neurotherapeutics.  20 (2023)  6 - p. 1723-1745 , 2023
Link: https://doi.org/10.1007/..
 
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12

Multiple Independent Gene Disorders Causing Bardet–Biedl Sy..:

Peixoto de Barcelos, Isabella ; Li, Dong ; Watson, Deborah...
Brain Sciences.  13 (2023)  8 - p. 1210 , 2023
Link: https://doi.org/10.3390/..
 
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13

Advanced approach for comprehensive mtDNA genome testing in..:

Wang, Jing ; Balciuniene, Jorune ; Diaz-Miranda, Maria Alejandra...
Molecular Genetics and Metabolism.  135 (2022)  1 - p. 93-101 , 2022
Link: https://doi.org/10.1016/..
 
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14

Early developmental delay in Leigh syndrome spectrum disord..:

Tinker, Rory J. ; Falk, Marni J. ; Goldstein, Amy...
Molecular Genetics and Metabolism.  135 (2022)  4 - p. 342-349 , 2022
Link: https://doi.org/10.1016/..
 
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15

Variants in ADD1 cause intellectual disability, corpus call..:

Qi, Cai ; Feng, Irena ; Costa, Ana Rita...
Genetics in Medicine.  24 (2022)  2 - p. 319-331 , 2022
Link: https://doi.org/10.1016/..
 
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