المؤلفون: Tanya Bardakjian, Max Krall, Di Wu, Richard Lao, Paul Ling-Fung Tang, Eunice Wan, Sarina Kopinsky, Adele Schneider, Pui-yan Kwok, Anne Slavotinek

المصدر: American Journal of Ophthalmology Case Reports, Vol 7, Iss C, Pp 102-106 (2017)

مصطلحات موضوعية: Anophthalmia, Microphthalmia, Growth/Differentiation Factor 3, GDF3, p.Arg266Cys in GDF3, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2451993616300809; https://doaj.org/toc/2451-9936

URL الوصول: https://doaj.org/article/efe52b12b9744d6195a0ceb513f3de87

المؤلفون: Amani Albakri, Phattrawan Pisuchpen, Jenina E. Capasso, Adele Schneider, Sarina Kopinsky, Tom Glaser, John P.‐W. Chiang, Anamaria Akapito Yomai, Donna McNear, Alex V. Levin

المصدر: American journal of medical genetics. Part AREFERENCES.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1eab36af6e18ed09ed7fed2d84538d4c
https://pubmed.ncbi.nlm.nih.gov/36595661

المؤلفون: Elena V. Semina, Linda M. Reis, Sarina Kopinsky, Tanya Bardakjian, Louise Amlie-Wolf, Adele Schneider

المصدر: Am J Med Genet A

مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Neurology, Anophthalmia, business.industry, Genitourinary system, Medical record, SOXB1 Transcription Factors, Anophthalmos, DNA, medicine.disease, Microphthalmia, Article, Growth hormone deficiency, Cohort, Intellectual disability, Genetics, medicine, Humans, Microphthalmos, Female, Registries, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99fc3f62214d8fe83672300d8a85d4bf
https://pubmed.ncbi.nlm.nih.gov/34562068

المؤلفون: Nutsuchar Wangtiraumnuay, Sarina Kopinsky, Adele Schneider, Jenina E. Capasso, Prashanth Iyer, Alex V. Levin, Rick Whitehead

المصدر: Clinical Dysmorphology. 28:46-49

مصطلحات موضوعية: Endophthalmitis, Receptors, Retinoic Acid, business.industry, MEDLINE, General Medicine, Bioinformatics, Pathology and Forensic Medicine, Text mining, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Humans, Microphthalmos, Medicine, Female, Anatomy, business, Receptor, Genetics (clinical), Retinoic acid metabolism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e089a1d70157bba161eeaf560655aab
https://doi.org/10.1097/mcd.0000000000000246

المؤلفون: Paul Ling-Fung Tang, Sarina Kopinsky, Pui-Yan Kwok, Richard Lao, Max Krall, Di Wu, Anne Slavotinek, Adele Schneider, Tanya Bardakjian, Eunice Wan

المصدر: American Journal of Ophthalmology Case Reports
American Journal of Ophthalmology Case Reports, Vol 7, Iss C, Pp 102-106 (2017)

مصطلحات موضوعية: 0301 basic medicine, medicine.disease_cause, Microphthalmia, 03 medical and health sciences, symbols.namesake, lcsh:Ophthalmology, Case report, p.Arg266Cys in GDF3, Genetics, medicine, 2.1 Biological and endogenous factors, Missense mutation, Aetiology, Anophthalmia, Eye Disease and Disorders of Vision, Kyphoscoliosis, Exome sequencing, Pediatric, GDF3, Sanger sequencing, Mutation, Coloboma, business.industry, Human Genome, medicine.disease, eye diseases, Ophthalmology, 030104 developmental biology, Growth/Differentiation Factor 3, lcsh:RE1-994, symbols, Congenital Structural Anomalies, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35856a04e7724efcf9e0631bd374cfbb
https://doi.org/10.1016/j.ajoc.2017.06.006

المؤلفون: Adele Schneider, Sarina Kopinsky

المصدر: eLS

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Coloboma, Anophthalmia, genetic structures, business.industry, food and beverages, Anatomy, medicine.disease, Microphthalmia, Penetrance, eye diseases, Developmental genes, medicine.anatomical_structure, medicine, Eye development, Optic nerve, sense organs, business, Orbit (anatomy)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::23ed2e817074c2308513aad3e1f38c43
https://doi.org/10.1002/9780470015902.a0026852

المؤلفون: Ehsan Ullah, Adele Schneider, Muhammad Ansar, Sarina Kopinsky, Eunice Wan, Richard Lao, Pui-Yan Kwok, Tanya Bardakjian, P. Ling-Fung Tang, Di Wu, Lohith Madireddy, Sergio E. Baranzini, Anne Slavotinek

المصدر: Ophthalmic genetics, vol 38, iss 4

مصطلحات موضوعية: 0301 basic medicine, 030105 genetics & heredity, Eye, Ophthalmology & Optometry, Polymerase Chain Reaction, Microphthalmia, Optic Nerve Diseases, Microphthalmos, 2.1 Biological and endogenous factors, Exome, Aetiology, Growth Disorders, Genetics (clinical), Exome sequencing, Pediatric, Genetics, Optic nerve hypoplasia, Coloboma, SALL4, Pedigree, Phenotype, Female, Haploinsufficiency, Sequence Analysis, Mutation, Missense, BMP4, Biology, Article, Atrial septal defects, Frameshift mutation, 03 medical and health sciences, Opthalmology and Optometry, medicine, Humans, Anophthalmia, Eye Disease and Disorders of Vision, Heart Septal Defects, Human Genome, Infant, Sequence Analysis, DNA, DNA, medicine.disease, eye diseases, Ophthalmology, 030104 developmental biology, microphthalmia, Mutation, Pediatrics, Perinatology and Child Health, Congenital Structural Anomalies, sense organs, Missense, Transcription Factors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f234a16e892e900d0f6c9fe2232eda39
https://doi.org/10.1080/13816810.2016.1217550

المؤلفون: Amani AlBakri, John Chiang, Thomas M Glaser, Jenina E. Capasso, Anamaria Yomai, Sarina Kopinsky, Adele Schneider, Alex V. Levin

المصدر: Journal of American Association for Pediatric Ophthalmology and Strabismus. 22:e49

مصطلحات موضوعية: Ophthalmology, Pediatrics, medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, medicine, Leber congenital amaurosis, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b1f446e54d21331c4a6622ec1f6ee5fe
https://doi.org/10.1016/j.jaapos.2018.07.179