23 results on '"Schneider, Adele"'
Search Results
2. Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis
3. Review of 37 patients withSOX2pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study
4. Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation
5. Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations
6. Erratam to novel SOX2 mutations and genotype‐phenotype correlation in anophthalmia and microphthalmia
7. Grade 1 microtia, wide anterior fontanel and novel type tracheo‐esophageal fistula in methimazole embryopathy
8. Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2
9. FOXE3plays a significant role in autosomal recessive microphthalmia
10. An 18-year follow-up report on an infant with a duplication of 9q34
11. NovelSOX2mutations and genotypeâphenotype correlation in anophthalmia and microphthalmia
12. Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase a enzyme assay is essential for accurate testing
13. Familial recurrence ofSOX2anophthalmia syndrome: Phenotypically normal mother with two affected daughters
14. Monozygotic twins discordant for VACTERL association
15. Role of SOX2 Mutations in Human Hippocampal Malformations and Epilepsy
16. SOX2 anophthalmia syndrome
17. Association of anophthalmia and esophageal atresia: Four new cases identified by the anophthalmia/microphthalmia clinical registry
18. New case of Cole-Carpenter syndrome
19. Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: An X-linked disorder?
20. Comprehensive 4-year follow-up on a case of maternal heterodisomy for chromosome 16
21. Duplication 9q34→qter identified by chromosome painting
22. Interstitial deletion of 4(q21q25) in a liveborn male
23. Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis.
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