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Rachel Schot
Rachel Schot
Boston Children's Hospital
Medicine
Endocrinology
Internal medicine
Genetics
Hypoglycemia
3
Papers
39
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Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis
2018
European Journal of Medical Genetics
Laura V. Vandervore
Rachel Schot
A. Jeannette M. Hoogeboom
Carsten Lincke
Irenaeus F.M. de Coo
Maarten H. Lequin
Marjolein H.G. Dremmen
Leontine M.A. van Unen
Jasper J. Saris
Anna Jansen
Marjon van Slegtenhorst
Martina Wilke
G.M.S. Mancini
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Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia
2015
Molecular Genetics and Metabolism
Mark Nellist
Rachel Schot
Marianne Hoogeveen-Westerveld
Rinze F. Neuteboom
Elles J.T.M. van der Louw
Maarten H. Lequin
Karen Bindels-de Heus
Barbara Sibbles
René de Coo
Alice S. Brooks
G.M.S. Mancini
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Citations (34)
DMO01 Cortical brain malformations: impact of clinical, neuroradiological and modern genetic classification
2007
European Journal of Paediatric Neurology
M.C.Y. de Wit
Maarten H. Lequin
I.F.M. de Coo
Esther Brusse
D. J. J. Halley
R. van de Graaf
William B. Dobyns
Rachel Schot
Frans W. Verheijen
G.M.S. Mancini
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