16 results on '"Schneider, Adele"'
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2. Expanded Carrier Screening in Reproductive Medicine—Points to Consider: A Joint Statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine
3. ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm
4. Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog
5. VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans
6. Grade 1 microtia, wide anterior fontanel and novel type tracheo-esophageal fistula in methimazole embryopathy
7. Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2
8. An 18-year follow-up report on an infant with a duplication of 9q34
9. Novel SOX2 Mutations and Genotype–Phenotype Correlation in Anophthalmia and Microphthalmia
10. Familial recurrence of SOX2 anophthalmia syndrome: Phenotypically normal mother with two affected daughters
11. Monozygotic twins discordant for VACTERL association
12. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome
13. Role of SOX2 Mutations in Human Hippocampal Malformations and Epilepsy
14. Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea
15. Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith–Wiedemann syndrome
16. Clinicopathologic exercise: Hypoglycemia in a young woman with amenorrhea
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