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Search Results - Peña-Guerra, Karla A
Search Results - Peña-Guerra, Karla A
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SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures
by
Khan, Amjad
,
Bruno, Lucia Pia
,
Alomar, Fadhel
,
Umair, Muhammad
,
Pinto, Anna Maria
,
Khan, Abid Ali
,
Khan, Alamzeb
,
Saima
,
Fabbiani, Alessandra
,
Zguro, Kristina
,
Furini, Simone
,
Mencarelli, Maria Antonietta
,
Renieri, Alessandra
,
Resciniti, Sara
,
Peña-Guerra, Karla A.
,
Guzmán-Vega, Francisco J.
,
Arold, Stefan T.
,
Ariani, Francesca
,
Khan, Shahid Niaz
Published in
Frontiers in molecular neuroscience
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Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome
by
Aboheimed, Ghada I.
,
AlRasheed, Maha M.
,
Almudimeegh, Sultan
,
Peña-Guerra, Karla A.
,
Cardona-Londoño, Kelly J.
,
Salih, Mustafa A.
,
Seidahmed, Mohammed Z.
,
Al-Mohanna, Futwan
,
Colak, Dilek
,
Harvey, Kirsten
,
Arold, Stefan T.
,
Kaya, Namik
,
Ruiz, Arnaud J.
Published in
The Journal of biological chemistry
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Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy
by
Altassan, Ruqaiah
,
AlQudairy, Hanan
,
AlJebreen, Sarah
,
AlMuhaizea, Mohammed
,
Al‐Hindi, Hindi
,
Pena‐Guerra, Karla A.
,
Ghebeh, Hazem
,
Almzroua, Amer
,
Albakheet, Albandary
,
AlDosary, Mazhor
,
Colak, Dilek
,
Arold, Stefan T.
,
Kaya, Namik
Published in
American journal of medical genetics. Part A
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American Journal Of Medical Genetics. Part A
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Frontiers In Molecular Neuroscience
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Journal Of Biological Chemistry/The Journal Of Biological Chemistry
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Dimethylallyltranstransferase - Genetics
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