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Authors :
Yang JL; Department of Cardiovascular Surgery, the Second Xiangya Hospital of Central South University, Changsha, China.; Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Changsha, Hunan, 410011, China.
Subjects: Microphthalmos*/Microphthalmos*/Microphthalmos*/genetics ; Chromosomal Proteins, Non-Histone*/Chromosomal Proteins, Non-Histone*/Chromosomal Proteins, Non-Histone*/genetics ; Choanal Atresia*/Choanal Atresia*/Choanal Atresia*/geneticsArhinia, choanal atresia, and microphthalmia
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Source:
BMC medical genomics [BMC Med Genomics] 2024 May 21; Vol. 17 (1), pp. 136. Date of Electronic Publication: 2024 May 21.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium:
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Authors :
Taylor RL; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology Medicine and Health, The University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), 6Th Floor St Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK.
Subjects: Microcephaly*/Microcephaly*/Microcephaly*/genetics ; Microphthalmos*/Microphthalmos*/Microphthalmos*/genetics; Humans
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Source:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Mar 04; Vol. 17 (1), pp. 110. Date of Electronic Publication: 2022 Mar 04.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium:
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Authors :
Song Z; Department of Ophthalmology, Shengjing Hospital, China Medical University, Shenyang, 110004, Liaoning, China.; Si N
Subjects: Mutation, Missense*; Cataract/Cataract/Cataract/*genetics ; Chromosome Disorders/Chromosome Disorders/Chromosome Disorders/*genetics Microphthalmia, Isolated, with Cataract 3
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Source:
BMC medical genetics [BMC Med Genet] 2018 Oct 19; Vol. 19 (1), pp. 190. Date of Electronic Publication: 2018 Oct 19.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium:
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Authors :
Pichiecchio A; Department of Neuroradiology, IRCCS Mondino Foundation, via Mondino 2, 27100, Pavia, Italy.; University of Pavia, Corso Strada Nuova 65, 27100, Pavia, Italy.
Subjects: Chromosomes, Human, Pair 14*; Anophthalmos/Anophthalmos/Anophthalmos/*diagnosis ; Microphthalmos/Microphthalmos/Microphthalmos/*diagnosis
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Source:
BMC medical genomics [BMC Med Genomics] 2018 Sep 29; Vol. 11 (1), pp. 87. Date of Electronic Publication: 2018 Sep 29.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium:
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