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Clinical aspects associated with syndromic forms of Orofacial Clefts in a Colombian population

Liliana Arias Urueña, Ignacio Briceño Balcazar, Julio Martinez Lozano, Andrew Collins, Daniel Alfredo Uricoechea Patiño (Author)
  • Páges : 162-167 |
  • 844 | 446 | 309 | 3 | 225
DOI: https://doi.org/10.25100/cm.v46i4.1712

V CONGRESO INTERNACIONAL

V CONGRESO INTERNACIONAL VIII CONGRESO COLOMBIANO DE GENÉTICA (Author)
  • Páges : 66 |
  • 571 | 480 | 518
DOI: https://doi.org/10.25100/cm.v39i2.Supl.2.704
A partial metaphase after FISH with a dual TUPLE1 red spectrum /ARSA green spectrum probe (Vysis®). The normal 22 chromosome had red and green signals meanwhile the deletion 22q11.2 chromosome lacked the red signal and had only the green one.

22q11.2 deletion detected by in situ hybridization in Mexican patients with velocardiofacial syndrome-like features.

Azubel Ramírez Velazco, Horacio Rivera, Ana Isabel Vásquez Velázquez, Thania Alejandra Aguayo Orozco, Saturnino Delgadillo Pérez, María Guadalupe Domínguez (Author)
  • Páges : 219-222 |
  • 731 | 368 | 262 | 1 | 17
DOI: https://doi.org/10.25100/cm.v49i3.3402

Anomalías y síndromes asociados con labio y/o paladar hendido

Carolina Isaza, León Alberto Manrique (Author)
  • Páges : 55-61 |
  • 4533
DOI: https://doi.org/10.25100/cm.v22i.2.2553

Perceptions of mothers with children affected by major congenital malformations: the need to develop a system of appropriate care. Qualitative study of focus groups

Fernando Suárez Obando, Adriana Ordóñez, Marisol Macheta (Author)
  • Páges : 85-94 |
  • 533 | 354 | 126
DOI: https://doi.org/10.25100/cm.v40i1.630

Kallmann’s syndrome: A propos of a case.

William Jubiz, Eduardo Antonio Cruz (Author)
  • Páges : 315-318 |
  • 657 | 389 | 369
DOI: https://doi.org/10.25100/cm.v37i4.462

Description of a case of Cornelia de Lange syndrome. Contribution to better ante-natal and post-natal diagnoses.

Martha Lucía Montes, Wilmar Saldarriaga, Carolina Isaza (Author)
  • Páges : 323-327 |
  • 788 | 372 | 283
DOI: https://doi.org/10.25100/cm.v37i4.464

Displasia campomélica. Descripción de un caso.

Erik Baltaxe, Fernando Suárez, Ignacio Zarante (Author)
  • Páges : 266-270 |
  • 558 | 317 | 594
DOI: https://doi.org/10.25100/cm.v36i.4.387
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299 Citations      2018-2021
 
143 documents  2018-20121
 
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