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Célia Priszkulnik Koiffmann
Célia Priszkulnik Koiffmann
University of São Paulo
Medicine
Macrocephaly
Speech delay
Intellectual disability
Exome sequencing
3
Papers
1
Citations
0
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2024
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Two novel pathogenic variants in MED13L: one familial and one isolated case.
2021
Journal of Intellectual Disability Research
Leonor Carvalho
S. S. da Costa
Francine Campagnari
A Kaufman
Débora Romeo Bertola
I. T. da Silva
Ana Cristina Victorino Krepischi
Célia Priszkulnik Koiffmann
Carla Rosenberg
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A novel MYT1L mutation in a boy with syndromic obesity: Case report and literature review.
2021
Obesity Research & Clinical Practice
Laura M.L. Carvalho
Carla S. DAngelo
Zan Mustacchi
Israel Tojal da Silva
Ana Cristina Victorino Krepischi
Célia Priszkulnik Koiffmann
Carla Rosenberg
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Sotos syndrome (McKusick 11755): report on 7 patients and review of clinical features from 198 published cases
1991
Arquivos De Neuro-psiquiatria
Danilo Moretti-Ferreira
Célia Priszkulnik Koiffmann
Anita Wajntal
Aron J. Diament
Berenice B. Mendonca
Josefina Mattieli
P. H. Saldanha
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