24 results on '"Amiel, J."'
Search Results
2. Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations
3. Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey
4. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management
5. A review of craniofacial disorders caused by spliceosomal defects
6. Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause
7. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
8. Successful pre-implantation genetic diagnosis for Hirschsprung disease
9. Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability
10. An overview of isolated and syndromic oesophageal atresia
11. Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation
12. PMX2B, a new candidate gene for Hirschsprungʼs disease
13. A CGH study of 27 patients with CHARGE association
14. Scalp-ear-nipple (Finlay-Marks) syndrome: a familial case with renal involvement
15. Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome
16. The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function
17. Clinical reappraisal of SHORT syndrome withPIK3R1mutations: toward recommendation for molecular testing and management
18. Nager syndrome: confirmation ofSF3B4haploinsufficiency as the major cause
19. Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome
20. Familial CHARGE syndrome because ofCHD7mutation: clinical intra- and interfamilial variability
21. Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.
22. Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
23. First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
24. Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.
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