Publications by authors named "Angelica Moresco"

15Publications

Skeletal dysplasias in Latin America.

Am J Med Genet C Semin Med Genet 2020 Nov 21. Epub 2020 Nov 21.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.c.31861DOI Listing
November 2020

Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.

Arch Argent Pediatr 2019 10;117(5):330-337

Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.

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http://dx.doi.org/10.5546/aap.2019.eng.330DOI Listing
October 2019

Williams-Beuren syndrome in diverse populations.

Am J Med Genet A 2018 05;176(5):1128-1136

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.38672
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http://dx.doi.org/10.1002/ajmg.a.38672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007881PMC
May 2018

[Pai syndrome: Two new cases with unusual manifestations].

Arch Argent Pediatr 2018 Apr;116(2):e336-e340

Servicio de Genética, Hospital de Pediatría Garrahan, Ciudad Autónoma de Buenos Aires, Argentina.

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http://dx.doi.org/10.5546/aap.2018.e336DOI Listing
April 2018

Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina.

Eur J Paediatr Neurol 2016 Nov 28;20(6):910-917. Epub 2016 Jul 28.

Department of Clinical and Molecular Genetics, Hospital Valle Hebron, Barcelona, Spain; CIBERER U-705, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.07.017DOI Listing
November 2016

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.

J Neurol 2014 Jan 27;261(1):152-63. Epub 2013 Oct 27.

MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK,

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http://link.springer.com/content/pdf/10.1007%2Fs00415-013-71
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http://www.rare-diseases.eu/wp-content/uploads/2013/08/41_t2
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http://link.springer.com/10.1007/s00415-013-7154-1
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http://dx.doi.org/10.1007/s00415-013-7154-1DOI Listing
January 2014

[Misoprostol teratogenicity: a prospective study in Argentina].

Arch Argent Pediatr 2011 Jun;109(3):226-31

Centro Nacional de Genética Médica, ANLIS, Ministerio de Salud, Argentina.

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http://dx.doi.org/10.1590/S0325-00752011000300007DOI Listing
June 2011