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American Journal of Medical Genetics. Part A|October 31, 2007
MECP2 deletions and genotype-phenotype correlation in Rett syndromeElisa Scala, Ilaria Longo, Federica Ottimo, et al.
American Journal of Medical Genetics. Part A|July 16, 2008
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like featuresFilomena Tiziana Papa, Maria Antonietta Mencarelli, Rossella Caselli, et al.
European Journal of Human Genetics : EJHG|October 18, 2024
Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variantSergio Daga, Lorenzo Loberti, Giulia Rollo, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 13, 2005
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five familiesIlaria Longo, Elisa Scala, Francesca Mari, et al.
Heliyon|November 25, 2024
A new knockin mouse carrying the E364X patient mutation for CDKL5 deficiency disorder: neurological, behavioral and molecular profilingC Quadalti, M Sannia, N E Humphreys, et al.
Ebiomedicine|December 9, 2022
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastomaFerdinando Bonfiglio, Vito Alessandro Lasorsa, Sueva Cantalupo, et al.
Neuroscience|March 23, 2016
Visual impairment in FOXG1-mutated individuals and miceE M Boggio, L Pancrazi, M Gennaro, et al.
Plos One|December 1, 2017
First-in-human phase I study of ISTH0036, an antisense oligonucleotide selectively targeting transforming growth factor beta 2 (TGF-β2), in subjects with open-angle glaucoma undergoing glaucoma filtration surgeryNorbert Pfeiffer, Bogomil Voykov, Giulia Renieri, et al.
Gene|May 14, 2013
Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: prevalence of a novel mutationChiara Di Marco, Anna Lavinia Bulotta, Concetta Varetti, et al.
Environmental Research|June 30, 2018
Effects of carbon and silicon nanotubes and carbon nanofibers on marine microalgae Heterosigma akashiwoK S Pikula, A M Zakharenko, V V Chaika, et al.
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