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1دورية أكاديمية
المؤلفون: Rowland, Marion, Drummond, Jennifer, Connolly, Lucy, Daly, Erika, McCormick, P. Aiden, Bourke, Billy, Amjad, Altaf, AnneMarie, Broderick, Brian, Casserly, Des, Cox, Animitra, Das, Basil, Elnazir, Rita, Fitzgerald, Emer, Fitzpatrick, Gallagher, Charles, Peter, Greally, Cedric, Gunaratnam, Fiona, Healy, Rosin, Hayes, Mary, Herzig, Shiela, Javadapour, Gerardine, Leen, Barry, Linnane, Michael, Mahony, Gerry, McElvaney, Edward, McKone, Paul, McNally, Dave, Mullane, Muireann, Ni Chroinin, Risteard, O'Liada, Michael, O'Mahony, Michael, O'Neill, Barry, Plant, Shona, Quinn, Ao, Sasame, Cathy, Short, Dubhfeasa, Slattery, Michael, Williamson, Rohininath, Tummaluru
المساهمون: Health Research Board
المصدر: Journal of Cystic Fibrosis ; volume 22, issue 6, page 1054-1061 ; ISSN 1569-1993
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.jcf.2023.07.002Test
https://api.elsevier.com/content/article/PII:S1569199323008305?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1569199323008305?httpAccept=text/plainTest -
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المؤلفون: Breandán N. Kennedy, Paul A. McGettigan, Jens Erik Nielsen, Andrew Green, Judith Conroy, Maria E Morrissey, Jillian P. Casey, Muireann Ni Chroinin, Peter Tormey, Riki Kawaguchi, Sean Ennis, Derek W. Morris, Paul Cormican, Regina Regan, Hui Sun, SallyAnn Lynch, Elaine Kenny
مصطلحات موضوعية: Adult, Male, Adolescent, Retinoic acid, Single-nucleotide polymorphism, Autosomal recessive colobomatous micro-anophthalmia, Consanguinity, Biology, Microphthalmia, Polymorphism, Single Nucleotide, Article, chemistry.chemical_compound, Young Adult, Homozygosity mapping, Genetics, medicine, Animals, Humans, Microphthalmos, Family, STRA6, Targeted next-generation sequencing, Genetics (clinical), Zebrafish, Coloboma, Anophthalmia, MWS, Homozygote, Anophthalmos, Chromosome Mapping, Infant, Membrane Proteins, medicine.disease, Disease gene identification, eye diseases, Pedigree, Mutation analysis, Phenotype, chemistry, Child, Preschool, Mutation, Matthew-Wood syndrome, Female, Matthew Wood syndrome, Ireland
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e054bcaf0843cadc8d8eab37bfb97360Test
https://europepmc.org/articles/PMC3918001Test/