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Search Results - Oberndorff, Karin M.E.J.
Search Results - Oberndorff, Karin M.E.J.
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De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy
by
Lee, Jae-Ran
,
Srour, Myriam
,
Kim, Doyoun
,
Hamdan, Fadi. F.
,
Lim, So-Hee
,
Brunel-Guitton, Catherine
,
DĂ©carie, Jean-Claude
,
Rossignol, Elsa
,
Mitchell, Grant A.
,
Schreiber, Allison
,
Moran, Rocio
,
Van Haren, Keith
,
Richardson, Randal
,
Nicolai, Joost
,
Oberndorff, Karin M.E.J.
,
Wagner, Justin D.
,
Boycott, Kym M.
,
Rahikkala, Elisa
,
Junna, Nella
,
Tyynismaa, Henna
,
Cuppen, Inge
,
Verbeek, Nienke E.
,
Stumpel, Connie T.R.M.
,
Willemsen, Michel A.
,
de Munnik, Sonja A.
,
Rouleau, Guy A.
,
Kim, Eunjoon
,
Kamsteeg, Erik-Jan
,
Kleefstra, Tjitske
,
Michaud, Jacques L.
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Human mutation
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Human Mutation
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Adolescent
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Adult
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Axonal Neuropathy
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Child
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Child, Preschool
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Cognition Disorders - Genetics
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Cognition Disorders - Pathology
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De Novo Mutations
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Epilepsy - Genetics
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Epilepsy - Pathology
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Genetics & Heredity
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Genomics
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Hereditary Sensory And Autonomic Neuropathies - Genetics
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Hereditary Sensory And Autonomic Neuropathies - Pathology
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Humans
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Intellectual Disability
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Kif1A
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Kinesin - Chemistry
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Kinesin - Genetics
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Life Sciences & Biomedicine
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