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Harry Pachajoa

Showing results (61-70 of 126) with videos related to

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Andes Pediatrica : Revista Chilena De Pediatria|June 9, 2021
[Sucecesfull bone marrow transplantation in a case of familial hemophagocytic lymphohistiocytosis type 3]Gabriela Caicedo-Herrera, Estephania Candelo, Manuela Olaya, et al.
European Journal of Human Genetics : EJHG|September 25, 2020
NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophyNina McTiernan, Harinder Gill, Carlos E Prada, et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|April 30, 2014
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 caseHarry Pachajoa, Maria F Hernandez-Amaris, Gloria Liliana Porras-Hurtado, et al.
The Application of Clinical Genetics|June 7, 2018
Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosisSara Vanegas, Luz Fernanda Sua, Jaime López-Tenorio, et al.
Archivos Argentinos De Pediatria|February 26, 2014
[Delayed diagnosis of juvenile Huntington's diseases: case report]Luis Enrique Meza Escobar, Jorge Luis Orozco, Yuri Takeuchi, et al.
EJIFCC|June 1, 2022
Hematological Findings in Lysosomal Storage Disorders: A Perspective from the Medical LaboratoryAndrés Felipe Leal, Wendy G Nieto, Estephania Candelo, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 10, 2020
Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in ColombiaJuliana Lores, Carlos E Prada, Diana Ramírez-Montaño, et al.
Frontiers in Genetics|July 21, 2023
Case report: A novel SON mutation in a Colombian patient with ZTTK syndromeDiana Marcela Vasquez-Forero, Barbara Masotto, Rosario Ferrer-Avargues, et al.
The Application of Clinical Genetics|August 28, 2020
Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case ReportLaura Torres-Canchala, Daniela Castaño, Nathalia Silva, et al.
The Application of Clinical Genetics|September 18, 2020
Hutchinson-Gilford Progeria Syndrome: Clinical and Molecular CharacterizationHarry Pachajoa, Angelica Claros-Hulbert, Ximena García-Quintero, et al.
Pageof 13

Showing results (61-70 of 126) with videos related to

Sort By:
Pageof 13
Andes Pediatrica : Revista Chilena De Pediatria|June 9, 2021
[Sucecesfull bone marrow transplantation in a case of familial hemophagocytic lymphohistiocytosis type 3]Gabriela Caicedo-Herrera, Estephania Candelo, Manuela Olaya, et al.
European Journal of Human Genetics : EJHG|September 25, 2020
NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophyNina McTiernan, Harinder Gill, Carlos E Prada, et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|April 30, 2014
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 caseHarry Pachajoa, Maria F Hernandez-Amaris, Gloria Liliana Porras-Hurtado, et al.
The Application of Clinical Genetics|June 7, 2018
Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosisSara Vanegas, Luz Fernanda Sua, Jaime López-Tenorio, et al.
Archivos Argentinos De Pediatria|February 26, 2014
[Delayed diagnosis of juvenile Huntington's diseases: case report]Luis Enrique Meza Escobar, Jorge Luis Orozco, Yuri Takeuchi, et al.
EJIFCC|June 1, 2022
Hematological Findings in Lysosomal Storage Disorders: A Perspective from the Medical LaboratoryAndrés Felipe Leal, Wendy G Nieto, Estephania Candelo, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 10, 2020
Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in ColombiaJuliana Lores, Carlos E Prada, Diana Ramírez-Montaño, et al.
Frontiers in Genetics|July 21, 2023
Case report: A novel SON mutation in a Colombian patient with ZTTK syndromeDiana Marcela Vasquez-Forero, Barbara Masotto, Rosario Ferrer-Avargues, et al.
The Application of Clinical Genetics|August 28, 2020
Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case ReportLaura Torres-Canchala, Daniela Castaño, Nathalia Silva, et al.
The Application of Clinical Genetics|September 18, 2020
Hutchinson-Gilford Progeria Syndrome: Clinical and Molecular CharacterizationHarry Pachajoa, Angelica Claros-Hulbert, Ximena García-Quintero, et al.
Pageof 13