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Norrie disease
General Contribution
SUPPLEMENTARY MATERIAL Effect of Next
Opthalmic Genetics
Genetic Investigation of 211 Chinese Families Expands the Mutational and Phenotypical Spectrum in Hereditary Retinopathy Genes Through Targeted Sequencing Technology
Neurology, Neuromuscular, and Cardiology Disorders
Pre-Implantation Genetic Diagnosis and Assisted Reproductive Technology in Haemophilia
Manifesting Heterozygosity in Norrie's Disease?
Norrie Disease Resulting from a Gene Deletion: Clinical Features and DNA Studies
A New Neurological Syndrome with Mental Retardation
Genes Covered and Disorders Detected by X-HR Microarray
Norrie Disease
A Fetus with an X;1 Balanced Reciprocal Translocation and Eye
Hereditary Hearing Loss and It's Syndromes
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss
Beacon Carrier Screening Detecting 400+ Conditions
A Tagged Corpus for Automatic Labeling of Disabilities in Medical Scientific Papers
Retinal Hamartoma in Oral-Facial-Digital Syndrome
Mapping Genes for X-Linked Disorders
Top View
Review Article Eye Disorders: Primary Hereditary Diseases of the Retina
Molecular Analysis of Male-Viable Deletions and Duplications Allows Ordering of 52 DNA Probes on Proximal Xq
Clinical and Whole-Exome Sequencing Findings in Individuals From
Novel Mutations in PAX6, OTX2 and NDP in Anophthalmia, Microphthalmia and Coloboma
Familial Exudative Vitreoretinopathy
Positive XL Female
Electronic Letter De Novo Mutations in the 5' Regulatory Region of the Norrie
The Molecular Basis of Human Anophthalmia and Microphthalmia
The Molecular Biology of Norrie's Disease
Ocular Pathology Review © 2015 Ralph C. Eagle, Jr., M.D. Director, Department of Pathology, Wills Eye Hospital 840 Walnut Stree
The Differential Diagnosis of Congenital Disorders That Include Psychosis
Pediatric Ophthalmology Online Version.Pptx
An Association Between Subclinical Familial Exudative Vitreoretinopathy and Rod-Cone Dystrophy
Norrie's Disease: a Prospective Study of Development
Norrie Disease and Exudative Vitreoretinopathy in Families with Affected Female Carriers
The Handbook of Ocular Disease Management
Molecular Genetics of Human Retinal Dystroph
Sleep Disorders in Rare Genetic Syndromes
Patterns of Retinal Disease in Children Arlene V
Prenatal Diagnosis of Norrie Disease After Whole Exome Sequencing of an Affected Proband During an Ongoing Pregnancy: a Case Report Andrey V
Review Article X Linked Mental Retardation
Primary Vitreoretinaldysplasia Resembling Norrie's
A Survey of European Clinical Geneticists
Sequence Analysis of the Human Genome Implications for the Understanding of Nervous System Function and Disease
Assignment – Human Genetic Conditions
The Role of Molecular Genetics in the Prenatal Diagnosis of Retinal Dystrophies
Anatomical and Functional Outcomes Following Vitrectomy for Advanced
Blueprint Genetics X-Linked Intellectual Disability Panel
Palpebral Myiasis Causing Preseptal Cellulitis
Recent Progress in the Genetics of Incontinentia Pigmenti (Bloch-Sulzberger Syndrome)
Diseases Tested – Preconception Genetic Carrier Screen
In Childhood G
Prevalence and Incidence of Rare Diseases
Norrie Disease
Electronic Supplementary Material (ESI) for Molecular Biosystems
Etiologies Related to Deafblindness and Hear Ing Loss This Is a List of Syndromes and Conditions That May Cause a Combined Vision and DEAFBLINDNESS Hearing Loss
PGT-M Disease List
PGT-M Disease List
Esit Diagnosis List
Probably Norrie's Disease Due to Mutation
A Review of Ocular Genetics and Inherited Eye Diseases SD Mathebula