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Search Results - Ruggiero, Sarah McKeown
Search Results - Ruggiero, Sarah McKeown
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A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism
by
Parthasarathy, Shridhar
,
Ruggiero, Sarah McKeown
,
Gelot, Antoinette
,
Soardi, Fernanda C
,
Ribeiro, Bethânia F R
,
Pires, Douglas E V
,
Ascher, David B
,
Schmitt, Alain
,
Rambaud, Caroline
,
Represa, Alfonso
,
Xie, Hongbo M
,
Lusk, Laina
,
Wilmarth, Olivia
,
McDonnell, Pamela Pojomovsky
,
Juarez, Olivia A
,
Grace, Alexandra N
,
Buratti, Julien
,
Mignot, Cyril
,
Gras, Domitille
,
Nava, Caroline
,
Pierce, Samuel R
,
Keren, Boris
,
Kennedy, Benjamin C
,
Pena, Sergio D J
,
Helbig, Ingo
,
Cuddapah, Vishnu Anand
Published in
American journal of human genetics
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Child neurology telemedicine: Analyzing 14 820 patient encounters during the first year of the COVID‐19 pandemic
by
Kaufman, Michael C.
,
Xian, Julie
,
Galer, Peter D.
,
Parthasarathy, Shridhar
,
Gonzalez, Alexander K.
,
McKee, Jillian L.
,
Prelack, Marisa S.
,
Fitzgerald, Mark P.
,
Helbig, Ingo
,
Ruggiero, Sarah Mckeown
,
Craig, Sansanee
,
Rametta, Salvatore C.
,
Molisani, Sara E.
,
Sharif, Uzma
,
Melamed, Susan E.
,
Digiovine, Marissa
,
Fried, Lawrence
,
Malcolm, Marissa P.
,
Kessler, Sudha Kilaru
,
Chadehumbe, Madeline
,
Szperka, Christina L.
,
Chuo, John
,
Caffee, Laurel
,
Stephenson, Donna J.
,
Banwell, Brenda L.
,
Goldberg, Ethan
,
Abend, Nicholas S.
,
Helbig, Katherine
Published in
Developmental medicine and child neurology
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American Journal Of Human Genetics
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Developmental Medicine And Child Neurology
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Humans
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Life Sciences & Biomedicine
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Science & Technology
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Adolescent
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Brain Diseases
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Child, Preschool
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Clinical Neurology
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Covid-19
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Developmental And Epileptic Encephalopathy
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Dnm1
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Dominant Negative
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Dynamin-1
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Dynamins
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Dynamins - Genetics
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