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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
November 21, 2020
An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist
Rafael Mena, Esperanza Mendoza, Maria Gomez Peña, et al.
IEEE Transactions on Medical Imaging
|
January 28, 2021
Active Cell Appearance Model Induced Generative Adversarial Networks for Annotation-Efficient Cell Segmentation and Identification on Adaptive Optics Retinal Images
Jianfei Liu, Christine Shen, Nancy Aguilera, et al.
JAMA Ophthalmology
|
August 5, 2021
Clinical and Histopathologic Correlates of Asymmetric Retinitis Pigmentosa
Trisha Lal, Zu-Xi Yu, Bin Guan, et al.
Pediatric Diabetes
|
November 5, 2015
Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a known INS gene mutation
Halley Wasserman, Robert B Hufnagel, Virginia Miraldi Utz, et al.
Journal of Child Neurology
|
May 19, 2026
Acute Choreoathetosis and Multisystem Inflammatory Syndrome in Children (MIS-C) Associated With a Novel Homozygous <i>MDH2</i> Variant
Kornkanok Saringkarisate, Joshua I Umland, Rodolfo E Bégué, et al.
Advances in Experimental Medicine and Biology
|
July 13, 2023
Genotype-Phenotype Association in ABCA4-Associated Retinopathy
Maximilian Pfau, Wadih M Zein, Laryssa A Huryn, et al.
Investigative Ophthalmology & Visual Science
|
February 4, 2025
Genotype-Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/β-Catenin Signaling Pathway Genes
Fulya Yaylacioglu Tuncay, Melissa J Reeves, Sairah Yousaf, et al.
Investigative Ophthalmology & Visual Science
|
May 20, 2021
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy
Tyler A Pfister, Wadih M Zein, Catherine A Cukras, et al.
Human Mutation
|
June 13, 2020
Genotype-phenotype associations in a large PRPH2-related retinopathy cohort
Melissa J Reeves, Kerry E Goetz, Bin Guan, et al.
American Journal of Medical Genetics. Part A
|
December 21, 2022
A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome
Ryan H Peretz, Wadih M Zein, Robert B Hufnagel, et al.
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Search research articles
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Showing results (41-50 of 156) with videos related to
Sort By:
Page
of 16
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
November 21, 2020
An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist
Rafael Mena, Esperanza Mendoza, Maria Gomez Peña, et al.
IEEE Transactions on Medical Imaging
|
January 28, 2021
Active Cell Appearance Model Induced Generative Adversarial Networks for Annotation-Efficient Cell Segmentation and Identification on Adaptive Optics Retinal Images
Jianfei Liu, Christine Shen, Nancy Aguilera, et al.
JAMA Ophthalmology
|
August 5, 2021
Clinical and Histopathologic Correlates of Asymmetric Retinitis Pigmentosa
Trisha Lal, Zu-Xi Yu, Bin Guan, et al.
Pediatric Diabetes
|
November 5, 2015
Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a known INS gene mutation
Halley Wasserman, Robert B Hufnagel, Virginia Miraldi Utz, et al.
Journal of Child Neurology
|
May 19, 2026
Acute Choreoathetosis and Multisystem Inflammatory Syndrome in Children (MIS-C) Associated With a Novel Homozygous <i>MDH2</i> Variant
Kornkanok Saringkarisate, Joshua I Umland, Rodolfo E Bégué, et al.
Advances in Experimental Medicine and Biology
|
July 13, 2023
Genotype-Phenotype Association in ABCA4-Associated Retinopathy
Maximilian Pfau, Wadih M Zein, Laryssa A Huryn, et al.
Investigative Ophthalmology & Visual Science
|
February 4, 2025
Genotype-Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/β-Catenin Signaling Pathway Genes
Fulya Yaylacioglu Tuncay, Melissa J Reeves, Sairah Yousaf, et al.
Investigative Ophthalmology & Visual Science
|
May 20, 2021
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy
Tyler A Pfister, Wadih M Zein, Catherine A Cukras, et al.
Human Mutation
|
June 13, 2020
Genotype-phenotype associations in a large PRPH2-related retinopathy cohort
Melissa J Reeves, Kerry E Goetz, Bin Guan, et al.
American Journal of Medical Genetics. Part A
|
December 21, 2022
A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome
Ryan H Peretz, Wadih M Zein, Robert B Hufnagel, et al.
Page
of 16