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American journal of human genetics, ISSN 0002-9297, 10/2012, Volume 91, Issue 4, pp. 672 - 684
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 04/2019, Volume 27, Issue 4, pp. 525 - 534
Journal Article
Nature genetics, ISSN 1061-4036, 08/2012, Volume 44, Issue 8, pp. 934 - 940
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 2012, Volume 20, Issue 12, pp. 1224 - 1233
anterior segment dysgenesis | FOXC1 | PITX2 | De Hauwere syndrome | Axenfeld-Rieger syndrome | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Ophthalmology | Malformations of the eye | Humans | Joint Instability - genetics | Male | Anterior Eye Segment - abnormalities | DNA Copy Number Variations | Muscle Hypotonia - diagnosis | Hearing Loss, Sensorineural - diagnosis | Gene Deletion | Facies | Female | Hydrocephalus - genetics | Hypertelorism - diagnosis | Eye Abnormalities - diagnosis | Hydrocephalus - diagnosis | Joint Instability - diagnosis | Muscle Hypotonia - genetics | Hypertelorism - genetics | Hearing Loss, Sensorineural - genetics | Transcription Factors - genetics | Eye Abnormalities - genetics | Forkhead Transcription Factors - genetics | Oculomotor Muscles - abnormalities | Homeodomain Proteins - genetics | Alleles | Mutation | Bone and Bones - abnormalities | Glaucoma | Heart | Pediatrics | Phenotypes | Neurosciences | Transcription factors | Congenital diseases | Copy number | Gene deletion | Hearing impairment | Gene expression | Patients | Defects | Literature reviews | Hearing | Clonal deletion | Genetics | Deoxyribonucleic acid--DNA | DNA sequencing | Index Medicus | copy number
Journal Article
American journal of human genetics, ISSN 0002-9297, 08/2015, Volume 97, Issue 2, pp. 311 - 318
Journal Article
Nature genetics, ISSN 1061-4036, 2011, Volume 43, Issue 6, pp. 601 - 606
Journal Article