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American Journal of Medical Genetics. Part A
|
September 13, 2011
Two sisters resembling Gorlin-Chaudhry-Moss syndrome
Teresa Aravena, Cristóbal Passalacqua, Oscar Pizarro, et al.
Revista Medica De Chile
|
June 7, 2003
[Mucolipidoses type II. Case report]
Mariana Aracena, Paulina Mabe, María Mena, et al.
Molecular Syndromology
|
February 20, 2018
Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review
Sofía Catena, Mariana Aracena, Óscar Pizarro, et al.
American Journal of Medical Genetics
|
November 20, 2002
Prader-Willi syndrome due to 15q11-q13 deletion in a girl with an inherited (13;14) Robertsonian translocation
Angélica Alliende, Bianca Curotto, Lorena Santa Maria, et al.
American Journal of Medical Genetics. Part A
|
May 31, 2019
RAF1 variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis
Fernando Rodríguez, Diana Ponce, Francisco J Berward, et al.
Revista Medica De Chile
|
September 29, 2004
[Clinical, cytogenetic and molecular characterization of a new case of Nijmegen breakage syndrome in Chile]
Katherine Marcelain, Mariana Aracena, Cecilia Be, et al.
Journal of Pediatric Genetics
|
November 16, 2018
Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with <i>KRAS</i> Variant
Fernando Rodríguez, Carla Vallejos, Víctor M Bolanos-Garcia, et al.
Transplant Immunology
|
February 23, 2024
Long-term remission of infantile Takayasu arteritis associated with germline CBL syndrome after allogeneic hematopoietic stem cell transplantation: A case report and literature review
Elizabeth Munoz-Osores, Mervin Piñones, Francisco Barriga, et al.
Biological Research
|
February 9, 2010
VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study
Juan Francisco Calderón, Alonso R Puga, M Luisa Guzmán, et al.
Revista Chilena De Pediatria
|
May 29, 2016
[Congenital anomalies of poor prognosis. Genetics Consensus Committee]
Rosa A Pardo Vargas, Mariana Aracena, Teresa Aravena, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 14) with videos related to
Sort By:
Page
of 2
American Journal of Medical Genetics. Part A
|
September 13, 2011
Two sisters resembling Gorlin-Chaudhry-Moss syndrome
Teresa Aravena, Cristóbal Passalacqua, Oscar Pizarro, et al.
Revista Medica De Chile
|
June 7, 2003
[Mucolipidoses type II. Case report]
Mariana Aracena, Paulina Mabe, María Mena, et al.
Molecular Syndromology
|
February 20, 2018
Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review
Sofía Catena, Mariana Aracena, Óscar Pizarro, et al.
American Journal of Medical Genetics
|
November 20, 2002
Prader-Willi syndrome due to 15q11-q13 deletion in a girl with an inherited (13;14) Robertsonian translocation
Angélica Alliende, Bianca Curotto, Lorena Santa Maria, et al.
American Journal of Medical Genetics. Part A
|
May 31, 2019
RAF1 variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis
Fernando Rodríguez, Diana Ponce, Francisco J Berward, et al.
Revista Medica De Chile
|
September 29, 2004
[Clinical, cytogenetic and molecular characterization of a new case of Nijmegen breakage syndrome in Chile]
Katherine Marcelain, Mariana Aracena, Cecilia Be, et al.
Journal of Pediatric Genetics
|
November 16, 2018
Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with <i>KRAS</i> Variant
Fernando Rodríguez, Carla Vallejos, Víctor M Bolanos-Garcia, et al.
Transplant Immunology
|
February 23, 2024
Long-term remission of infantile Takayasu arteritis associated with germline CBL syndrome after allogeneic hematopoietic stem cell transplantation: A case report and literature review
Elizabeth Munoz-Osores, Mervin Piñones, Francisco Barriga, et al.
Biological Research
|
February 9, 2010
VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study
Juan Francisco Calderón, Alonso R Puga, M Luisa Guzmán, et al.
Revista Chilena De Pediatria
|
May 29, 2016
[Congenital anomalies of poor prognosis. Genetics Consensus Committee]
Rosa A Pardo Vargas, Mariana Aracena, Teresa Aravena, et al.
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of 2