Publications by authors named "Maria Gabriela Obregon"

14Publications

Providing more evidence on LZTR1 variants in Noonan syndrome patients.

Am J Med Genet A 2020 02 11;182(2):409-414. Epub 2019 Dec 11.

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

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http://dx.doi.org/10.1002/ajmg.a.61445DOI Listing
February 2020

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

A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival.

Am J Med Genet A 2016 09 29;170(9):2436-9. Epub 2016 Jun 29.

Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37823DOI Listing
September 2016

Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.

Am J Med Genet A 2016 May 21;170A(5):1295-301. Epub 2016 Jan 21.

Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37570DOI Listing
May 2016

[Partial duplication of chromosome 4 in a patient with bilateral ocular coloboma].

Arch Argent Pediatr 2012 Aug;110(4):e59-62

Sanatorio Mater Dei, Ciudad Autónoma de Buenos Aires, Argentina.

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http://dx.doi.org/10.5546/aap.2012.e59DOI Listing
August 2012

Oral-facial-digital syndrome gabrielli type: second report.

Am J Med Genet A 2003 May;118A(4):369-71

Department of Medical Genetics, Garrahan Pediatrics Hospital, Buenos Aires, Argentina.

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http://dx.doi.org/10.1002/ajmg.a.10073DOI Listing
May 2003