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Boletin Medico Del Hospital Infantil De Mexico
|
June 5, 2020
Newborn transient patterned hyperpigmentation and anophthalmia
Oscar F Chacón Camacho, Rocío Arce-González, Genaro Rodríguez Uribe
Expert Review of Molecular Diagnostics
|
September 26, 2017
The clinical implications of molecular monitoring and analyses of inherited retinal diseases
Oscar F Chacón-Camacho, Leopoldo A García-Montaño, Juan C Zenteno
Experimental Eye Research
|
February 20, 2013
ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation
Oscar F Chacón-Camacho, Mariella Granillo-Alvarez, Raul Ayala-Ramírez, et al.
Clinical & Experimental Ophthalmology
|
May 11, 2017
PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants
Sofía Pérez-Solórzano, Oscar F Chacón-Camacho, Mirena C Astiazarán, et al.
American Journal of Medical Genetics. Part A
|
May 4, 2016
Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome
Oscar F Chacón-Camacho, Nara Sobreira, Jing You, et al.
Case Reports in Neurological Medicine
|
October 29, 2014
Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease
Raul E Piña-Aguilar, Aurea Vera-Loaiza, Oscar F Chacón-Camacho, et al.
American Journal of Ophthalmology Case Reports
|
April 28, 2025
Unveiling the complexity of Schimmelpenning-Feuerstein-Mims syndrome: A comprehensive case study
Guillermo Raul Vera-Duarte, Ruth Eskenazi-Betech, Isabel De la Fuente-Batta, et al.
Biomed Research International
|
January 22, 2024
Identification of Genetic Variants for Diabetic Retinopathy Risk Applying Exome Sequencing in Extreme Phenotypes
Juan C Zenteno, Oscar F Chacón-Camacho, Vianey Ordoñez-Labastida, et al.
Ophthalmic Genetics
|
July 3, 2024
Familial fleck corneal dystrophy caused by complete deletion of the <i>PIKFYVE</i> gene
Víctor R de J López-Rodríguez, Rocío Arce-González, Alejandro Navas-Pérez, et al.
Molecular Vision
|
May 6, 2020
Clinical, histopathological, and in silico pathogenicity analyses in a pedigree with familial amyloidosis of the Finnish type (Meretoja syndrome) caused by a novel gelsolin mutation
Jesus Cabral-Macias, Leopoldo A Garcia-Montaño, Mario Pérezpeña-Díazconti, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 13) with videos related to
Sort By:
Page
of 2
Boletin Medico Del Hospital Infantil De Mexico
|
June 5, 2020
Newborn transient patterned hyperpigmentation and anophthalmia
Oscar F Chacón Camacho, Rocío Arce-González, Genaro Rodríguez Uribe
Expert Review of Molecular Diagnostics
|
September 26, 2017
The clinical implications of molecular monitoring and analyses of inherited retinal diseases
Oscar F Chacón-Camacho, Leopoldo A García-Montaño, Juan C Zenteno
Experimental Eye Research
|
February 20, 2013
ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation
Oscar F Chacón-Camacho, Mariella Granillo-Alvarez, Raul Ayala-Ramírez, et al.
Clinical & Experimental Ophthalmology
|
May 11, 2017
PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants
Sofía Pérez-Solórzano, Oscar F Chacón-Camacho, Mirena C Astiazarán, et al.
American Journal of Medical Genetics. Part A
|
May 4, 2016
Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome
Oscar F Chacón-Camacho, Nara Sobreira, Jing You, et al.
Case Reports in Neurological Medicine
|
October 29, 2014
Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease
Raul E Piña-Aguilar, Aurea Vera-Loaiza, Oscar F Chacón-Camacho, et al.
American Journal of Ophthalmology Case Reports
|
April 28, 2025
Unveiling the complexity of Schimmelpenning-Feuerstein-Mims syndrome: A comprehensive case study
Guillermo Raul Vera-Duarte, Ruth Eskenazi-Betech, Isabel De la Fuente-Batta, et al.
Biomed Research International
|
January 22, 2024
Identification of Genetic Variants for Diabetic Retinopathy Risk Applying Exome Sequencing in Extreme Phenotypes
Juan C Zenteno, Oscar F Chacón-Camacho, Vianey Ordoñez-Labastida, et al.
Ophthalmic Genetics
|
July 3, 2024
Familial fleck corneal dystrophy caused by complete deletion of the <i>PIKFYVE</i> gene
Víctor R de J López-Rodríguez, Rocío Arce-González, Alejandro Navas-Pérez, et al.
Molecular Vision
|
May 6, 2020
Clinical, histopathological, and in silico pathogenicity analyses in a pedigree with familial amyloidosis of the Finnish type (Meretoja syndrome) caused by a novel gelsolin mutation
Jesus Cabral-Macias, Leopoldo A Garcia-Montaño, Mario Pérezpeña-Díazconti, et al.
Page
of 2