Showing 1 - 14 results of 14 for search '"Genetics"', query time: 0.04s Refine Results
  1. 1
    http://purl.org/coar/resource_type/c_c94f
    Search for genetic causes of microtia: results on exome sequencing of 17 trios
    Por Pachajoa Londoño, Harry Mauricio
    Published in 2015
    Repositorio Repositorio ICESI

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  2. 2
    Article of investigation
    La acondroplasia entre las poblaciones antiguas de mesoamérica y sudamérica: Evidencia iconográfica y arqueológica
    Por Isaza, Carolina; Rodríguez, Carlos Armando; Pachajoa Londoño, Harry Mauricio
    Published in 2012
    Repositorio Repositorio ICESI

    Subjects: “...Genetics...”
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  3. 3
    Revisión
    Possible case of sirenomelia in the Tumaco-Tolita pottery pre-Columbian culture, 2000 years before the epidemic focus of sirenomelia in Cali-Colombia.
    Por Pachajoa Londoño, Harry Mauricio; Rodríguez, Carlos Armando Rmando
    Published in 2011
    Repositorio Repositorio ICESI

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  4. 4
    Revisión
    Sirenomelia and cyclopia in the same patient after a cluster of cyclopia and sirenomelia in Cali (South America)
    Por Pachajoa Londoño, Harry Mauricio; Isaza, Carolina
    Published in 2012
    Repositorio Repositorio ICESI

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  5. 5
    Article of investigation
    Siamese twins with craniofacial duplication and bilateral cleft lip/palate in a ceramic representation of the Chimú culture (Peru): a comparative analysis with a current case.
    Por Pachajoa Londoño, Harry Mauricio; Rodríguez, Carlos Armando; Porras Hurtado, Gloria Liliana; Hernandez Amaris, María F.
    Published in 2014
    Repositorio Repositorio ICESI

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  6. 6
    Article of investigation
    Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia
    Por Pachajoa Londoño, Harry Mauricio; Ruiz Botero, Felipe
    Published in 2016
    Repositorio Repositorio ICESI

    “...Focal dermal hypoplasia is a rare genetic disease characterized 8-year-old female who sought...”
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  7. 7
    Article of investigation
    Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient
    Por Pachajoa Londoño, Harry Mauricio; Ramirez-Botero, Andrés Felipe
    Published in 2016
    Repositorio Repositorio ICESI

    “... pregnancy. Genetic testing detected a previously reported pathogenic heterozygous mutation in the SOX2 gene...”
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  8. 8
    Article of investigation
    Vascular disruption birth defects are not associated to chromosomal alterations
    Por Pachajoa Londoño, Harry Mauricio; Méndez, Fabián; Ariza, Yoseth; Isaza, Carolina
    Published in 2015
    Repositorio Repositorio ICESI

    “... cytogenetists performed independent evaluation of the genetic material of the patients, and no chromosomal...”
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  9. 9
    Article of investigation
    Síndrome de Seckel, Dos Casos en una Familia Colombiana
    Por Pachajoa Londoño, Harry Mauricio; Isaza, Carolina; Saldarriaga, Wilmar
    Published in 2010
    Repositorio Repositorio ICESI

    “...Seckel syndrome is an infrequent autosomic recessive genetic disorder. It is characterized by short...”
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  10. 10
    Article of investigation
    Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: A case report
    Por Ruiz-Botero, Felipe; Pachajoa Londoño, Harry Mauricio
    Published in 2016
    Repositorio Repositorio ICESI

    “...Genetic disorders are a major cause in the etiology of cases with intellectual disability; however...”
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  11. 11
    Informe
    Retraso en el diagnóstico de un cuadro grave de enfermedad de Huntington juvenil: caso clínico
    Por Escobar, Luis Enrique Meza; Orozco, Jorge Luis; Ariza Araujo, Yoseth Jesualdo; Pachajoa Londoño, Harry Mauricio; Takeuchi Tan, Yuri
    Published in 2014
    Repositorio Repositorio ICESI

    “... the diagnosis. Genetic counseling must be carefully done due to the high suicide risk among these patients. We...”
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  12. 12
    Article of investigation
    Mosaic trisomy 13 and a sacral appendage
    Por Pachajoa Londoño, Harry Mauricio; Meza Escobar, Luis Enrique.
    Published in 2013
    Repositorio Repositorio ICESI

    “... and a less severe phenotype compared to patients with complete trisomy 13. Genetic counselling...”
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  13. 13
    Article of investigation
    Clinical and molecular characterisation of two siblings with fibrodysplasia ossificans progressiva, from the Colombian Pacific coast (South America)
    Por Pachajoa Londoño, Harry Mauricio; Botero Ramírez, Andrés Felipe
    Published in 2015
    Repositorio Repositorio ICESI

    “...Fibrodysplasia ossificans progressiva (FOP, MIM 135 100) is an uncommon genetic disease with a...”
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  14. 14
    Article of investigation
    From the embryological basis to the clinical prune belly syndrome
    Por Pachajoa Londoño, Harry Mauricio
    Published in 2016
    Repositorio Repositorio ICESI

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