Frontiers | Concepts in Multifactorial Etiology of Developmental Disorders: Gene-Gene and Gene-Environment Interactions in Holoprosencephaly
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Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms - Colman - Human Mutation - Wiley Online Library
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The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome | European Journal of Human Genetics
Applied Sciences | Free Full-Text | Detectors and Cultural Heritage: The INFN-CHNet Experience
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American Journal of Medical Genetics Part A: Vol 185, No 2
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Deciphering the complexity of simple chromosomal insertions by genome sequencing | SpringerLink
The Treatment of the Dually Diagnosed: Intellectual Disability and Severe Psychopathology | SpringerLink
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Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene - Beck - 2015 - American Journal of Medical Genetics Part A - Wiley Online Library
Frontiers | Neurodevelopmental Disorders (NDD) Caused by Genomic Alterations of the Ubiquitin-Proteasome System (UPS): the Possible Contribution of Immune Dysregulation to Disease Pathogenesis
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Applied Sciences | Free Full-Text | Detectors and Cultural Heritage: The INFN-CHNet Experience
Applied Sciences | Free Full-Text | Detectors and Cultural Heritage: The INFN-CHNet Experience
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Applied Sciences | Free Full-Text | Detectors and Cultural Heritage: The INFN-CHNet Experience
Vibrational spectroscopy of fullerenes (C60 and C70). Temperature dependant studies | The Journal of Physical Chemistry
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Metabolic regulation and function of T helper cells in neuroinflammation | SpringerLink
