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1 . Academic Journal
The effect of photographic light brightness on cup to disc ratio grading
저자
by
Matthew J. McSoley
;
Eldar Rosenfeld
;
Alana Grajewski
;
Ta Chen Chang
.
소스
BMC Ophthalmology, Vol 21, Iss 1, Pp 1-4 (2021)
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6 . Academic Journal
Case Series of Brittle Cornea Syndrome
저자
by
Taher Eleiwa
;
Mariam Raheem
;
Nimesh A. Patel
;
Audina M. Berrocal
;
Alana Grajewski
, et al.
소스
Case Reports in Ophthalmological Medicine, Vol 2020 (2020)
Open Access (DOAJ)
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7 . Academic Journal
A retrospective survey of childhood glaucoma prevalence according to Childhood Glaucoma Research Network classification
저자
by
Ambika Hoguet
;
Alana Grajewski
;
Elizabeth Hodapp
;
Ta Chen Peter Chang
.
소스
Indian Journal of Ophthalmology, Vol 64, Iss 2, Pp 118-123 (2016)
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6 . Academic Journal
Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida
저자
by
Saradadevi Thanikachalam
;
Elizabeth Hodapp
;
Ta C. Chang
;
Dayna Morel Swols
;
Filiz B. Cengiz
, et al.
소스
Genes, Vol 11, Iss 4, p 350 (2020)
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7 .
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
저자
by
Suma P. Shankar
;
Kristin Grimsrud
;
Louise Lanoue
;
Alena Egense
;
Brandon Willis
, et al.
소스
Genet Med
Open Access (OpenAIRE)
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7 .
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11
저자
by
Thomas A. Ravenscroft
;
Jennifer B. Phillips
;
Elizabeth Fieg
;
Sameer S. Bajikar
;
Judy Peirce
, et al.
소스
Genetics in medicine : official journal of the American College of Medical Genetics
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7 .
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network
저자
by
Rebecca C. Spillmann
;
Queenie K.-G. Tan
;
Chloe Reuter
;
Kelly Schoch
;
Jennefer Kohler
, et al.
소스
Genetics in Medicine
. 25:100353
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7 .
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain
저자
by
Felix Marbach
;
Georgi Stoyanov
;
Florian Erger
;
Constantine A. Stratakis
;
Nikolaos Settas
, et al.
소스
Genetics in Medicine
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7 .
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
저자
by
Shilpa Nadimpalli Kobren
;
Dustin Baldridge
;
Matt Velinder
;
Joel B. Krier
;
Kimberly LeBlanc
, et al.
소스
Genetics in Medicine
Full Text (ScienceDirect O/A)
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7 .
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science
저자
by
Kelly Schoch
;
Cecilia Esteves
;
Anna Bican
;
Rebecca Spillmann
;
Heidi Cope
, et al.
소스
Genetics in medicine : official journal of the American College of Medical Genetics
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