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Pediatric Annals
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May 12, 2018
Updates in Newborn Screening
Farrah Rajabi
European Journal of Ophthalmology
|
June 21, 2021
A novel variant in the <i>TSPAN12</i> gene-presenting as unilateral myopia, pediatric cataract, and heterochromia in a patient with familial exudative vitreoretinopathy
Abdelrahman M Elhusseiny, Mireille Jabroun, Farrah Rajabi, et al.
European Journal of Medical Genetics
|
March 15, 2020
Imprinted genes in clinical exome sequencing: Review of 538 cases and exploration of mouse-human conservation in the identification of novel human disease loci
Elizabeth J Bhoj, Farrah Rajabi, Samuel W Baker, et al.
Proceedings (Baylor University. Medical Center)
|
June 27, 2022
Bilateral consecutive choroidal neovascularization in Best vitelliform macular dystrophy
Sandra Hoyek, Lisa Y Lin, Lindsay Klofas Kozek, et al.
Molecular Genetics and Metabolism Reports
|
March 19, 2026
Two adult sisters with untreated phenylketonuria: Strikingly discordant clinical phenotype
Didem Demirbas, Susan E Waisbren, Olaf Bodamer, et al.
American Journal of Ophthalmology
|
March 10, 2024
Characteristics of Eyes With CRB1-Associated EOSRD/LCA: Age-Related Changes
Jad Ayash, Russell L Woods, James D Akula, et al.
Molecular Genetics and Metabolism
|
October 19, 2019
Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study
Farrah Rajabi, Frances Rohr, Ann Wessel, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
March 6, 2021
Graves' disease in a five-month-old boy with an unusual treatment course
Svetlana Azova, Farrah Rajabi, Biren P Modi, et al.
JIMD Reports
|
September 10, 2017
Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female
Farrah Rajabi, Lance H Rodan, Maureen M Jonas, et al.
The Journal of Pediatrics
|
April 24, 2018
Acute Pancreatitis in a Patient with Maple Syrup Urine Disease: A Management Paradox
Nina B Gold, Jennifer A Blumenthal, Ann E Wessel, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 19) with videos related to
Sort By:
Page
of 2
Pediatric Annals
|
May 12, 2018
Updates in Newborn Screening
Farrah Rajabi
European Journal of Ophthalmology
|
June 21, 2021
A novel variant in the <i>TSPAN12</i> gene-presenting as unilateral myopia, pediatric cataract, and heterochromia in a patient with familial exudative vitreoretinopathy
Abdelrahman M Elhusseiny, Mireille Jabroun, Farrah Rajabi, et al.
European Journal of Medical Genetics
|
March 15, 2020
Imprinted genes in clinical exome sequencing: Review of 538 cases and exploration of mouse-human conservation in the identification of novel human disease loci
Elizabeth J Bhoj, Farrah Rajabi, Samuel W Baker, et al.
Proceedings (Baylor University. Medical Center)
|
June 27, 2022
Bilateral consecutive choroidal neovascularization in Best vitelliform macular dystrophy
Sandra Hoyek, Lisa Y Lin, Lindsay Klofas Kozek, et al.
Molecular Genetics and Metabolism Reports
|
March 19, 2026
Two adult sisters with untreated phenylketonuria: Strikingly discordant clinical phenotype
Didem Demirbas, Susan E Waisbren, Olaf Bodamer, et al.
American Journal of Ophthalmology
|
March 10, 2024
Characteristics of Eyes With CRB1-Associated EOSRD/LCA: Age-Related Changes
Jad Ayash, Russell L Woods, James D Akula, et al.
Molecular Genetics and Metabolism
|
October 19, 2019
Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study
Farrah Rajabi, Frances Rohr, Ann Wessel, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
March 6, 2021
Graves' disease in a five-month-old boy with an unusual treatment course
Svetlana Azova, Farrah Rajabi, Biren P Modi, et al.
JIMD Reports
|
September 10, 2017
Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female
Farrah Rajabi, Lance H Rodan, Maureen M Jonas, et al.
The Journal of Pediatrics
|
April 24, 2018
Acute Pancreatitis in a Patient with Maple Syrup Urine Disease: A Management Paradox
Nina B Gold, Jennifer A Blumenthal, Ann E Wessel, et al.
Page
of 2