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Journal Article
Journal of medical genetics, ISSN 0022-2593, 02/2016, Volume 53, Issue 2, pp. 98 - 110
Journal Article
American journal of human genetics, ISSN 0002-9297, 12/2017, Volume 101, Issue 6, pp. 1021 - 1033
Journal Article
Nature communications, ISSN 2041-1723, 03/2019, Volume 10, Issue 1, pp. 1180 - 1180
Journal Article
by Rainger, Joe and Pehlivan, Davut and Johansson, Stefan and Bengani, Hemant and Sanchez-Pulido, Luis and Williamson, Kathleen A and Ture, Mehmet and Barker, Heather and Rosendahl, Karen and Spranger, Jürgen and Horn, Denise and Meynert, Alison and Floyd, James A.B and Prescott, Trine and Anderson, Carl A and Rainger, Jacqueline K and Karaca, Ender and Gonzaga-Jauregui, Claudia and Jhangiani, Shalini and Muzny, Donna M and Seawright, Anne and Soares, Dinesh C and Kharbanda, Mira and Murday, Victoria and Finch, Andrew and Gibbs, Richard A and van Heyningen, Veronica and Taylor, Martin S and Yakut, Tahsin and Knappskog, Per M and Hurles, Matthew E and Ponting, Chris P and Lupski, James R and Houge, Gunnar and FitzPatrick, David R and Hurles, Matthew and FitzPatrick, David R and Al-Turki, Saeed and Anderson, Carl and Barroso, Inês and Beales, Philip and Bentham, Jamie and Bhattacharya, Shoumo and Carss, Keren and Chatterjee, Krishna and Cirak, Sebhattin and Cosgrove, Catherine and Daly, Allan and Floyd, Jamie and Franklin, Chris and Futema, Marta and Humphries, Steve and McCarthy, Shane and Mitchison, Hannah and Muntoni, Francesco and Onoufriadis, Alexandros and Parker, Victoria and Payne, Felicity and Plagnol, Vincent and Raymond, Lucy and Savage, David and Scambler, Peter and Schmidts, Miriam and Semple, Robert and Serra, Eva and Stalker, Jim and van Kogelenberg, Margriet and Vijayarangakannan, Parthiban and Walter, Klaudia and Wood, Gretta and UK10K and Baylor-Hopkins Center for Mendelian Genomics and Baylor-Hopkins Ctr Mendelian Genom
American journal of human genetics, ISSN 0002-9297, 06/2014, Volume 94, Issue 6, pp. 915 - 923
Journal Article
PloS one, ISSN 1932-6203, 2010, Volume 5, Issue 5, pp. e10565 - e10565
Anophthalmia and microphthalmia are important birth defects, but their pathogenesis remains incompletely understood. We studied a patient with severe... 
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Eye - pathology | Oligonucleotide Array Sequence Analysis | Microphthalmos - genetics | Protein Disulfide-Isomerases - metabolism | Homeodomain Proteins - metabolism | Humans | Coloboma - genetics | Molecular Sequence Data | Infant | Male | Microphthalmos - pathology | RNA, Messenger - metabolism | Anophthalmos - genetics | Coloboma - pathology | In Situ Hybridization | DNA Mutational Analysis | Larva - drug effects | Base Pairing - genetics | Base Sequence | Eye - drug effects | Oligonucleotides, Antisense - pharmacology | RNA, Messenger - genetics | Gene Expression Regulation, Developmental - drug effects | Eye - growth & development | Zebrafish - genetics | Organ Size - drug effects | Phenotype | Protein Disulfide-Isomerases - genetics | Animals | LIM-Homeodomain Proteins | Mice | Transcription Factors | Sequence Deletion - genetics | Medicine, Experimental | Medical research | Birth defects | Gene expression | Genes | Glutamine | Pediatrics | Larvae | Transcription factors | Congenital defects | Pathogenesis | Families & family life | Retina | Genomes | Hybridization | Neurogenesis | Eye | Morphogenesis | Clonal deletion | Coinjection | Genetics | Physiology | Chromosome 18 | Phenotypes | Optic nerve | Fertilization | Albinism | Dermatology | Zebrafish | Antisense RNA | Chromosome deletion | Artificial chromosomes | Injection | Anatomy & physiology | Epithelium | Patients | Haploinsufficiency | Retinal ganglion cells | Islet-1 protein | Hernias | Anophthalmia | Mutation | Microphthalmia | Apoptosis | Eye lens | Index Medicus
Journal Article