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Journal of Cellular Physiology|February 4, 2005
Non-syndromic X-linked mental retardation: from a molecular to a clinical point of viewA Renieri, C Pescucci, I Longo, et al.
Clinical Genetics|February 28, 2004
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like featuresC Pescucci, I Meloni, M Bruttini, et al.
Clinical Genetics|June 6, 2003
Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicismS Palmeri, F Mari, I Meloni, et al.
Brain & Development|June 20, 2008
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)A Renieri, F Mari, M A Mencarelli, et al.
International Journal of Immunopathology and Pharmacology|October 13, 2012
Vav1 haploinsufficiency in a common variable immunodeficiency patient with defective T-cell functionN Capitani, F Ariani, A Amedei, et al.
BMC Nephrology|February 28, 2019
Non-collagen genes role in digenic Alport syndromeS Daga, C Fallerini, S Furini, et al.
Journal of Medical Genetics|February 4, 2005
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasmsE Scala, F Ariani, F Mari, et al.
Neuroscience|January 27, 2009
The XLMR gene ACSL4 plays a role in dendritic spine architectureI Meloni, V Parri, R De Filippis, et al.
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