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Samantha Stora

19

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253

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Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial

2019 Genetics in Medicine
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Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation?

2019 Molecular Syndromology
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Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases

2018 Molecular Genetics & Genomic Medicine
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COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?

2018 Molecular Syndromology
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Homozygous mutation in ELMO2 may cause Ramon syndrome

2018 Clinical Genetics
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The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ

2013 European Journal of Human Genetics
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How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?†

2011 American Journal of Medical Genetics Part A
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Trisomy for Synaptojanin1 in Down’s Syndrome is Functionally Linked to the Enlargement of Early Endosomes, the First Morphological Evidence of Alzheimer’s Disease

2011 Alzheimers & Dementia
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A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation

2009 European Journal of Medical Genetics
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Heart-hand syndrome of Slovenian type: a new kind of laminopathy

2008 Journal of Medical Genetics
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