Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia.
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American Journal of Medical Genetics, Part C: Seminars in Medical Genetics.
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Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States.
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American Journal of Medical Genetics, Part C: Seminars in Medical Genetics.
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An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist.
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American Journal of Medical Genetics, Part C: Seminars in Medical Genetics.
2020;
184:996-1008.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
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The American Journal of Human Genetics.
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Ophthalmic genetics in South America.
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American Journal of Medical Genetics, Part C: Seminars in Medical Genetics.
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Gaucher disease and SARS-CoV-2 infection: Emerging management challenges.
Mistry, P; Balwani, M; Barbouth, D; Burrow, TA; Ginns, EI; Goker-Alpan, O; Grabowski, GA; Kartha, RV; Kishnani, PS; Lau, H; et al.
Molecular Genetics and Metabolism.
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Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms.
Chung, H; Wangler, MF; Marcogliese, PC; Jo, J; Ravenscroft, TA; Zuo, Z; Duraine, L; Sadeghzadeh, S; Li-Kroeger, D; Schmidt, RE; et al.
Neuron.
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The sixth international RASopathies symposium: Precision medicine—From promise to practice.
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American Journal of Medical Genetics, Part A.
2020;
182:597-606.
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.
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Science Advances.
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Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
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Hepatology.
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