46 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. Repeated social defeat stress enhances the anxiogenic effect of bright light on operant reward-seeking behavior in rats
7. Prevalence and management of gastrointestinal manifestations in Silver–Russell syndrome
8. Corticosteroids in the management of brain-dead potential organ donors: a systematic review
9. Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause
10. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
11. Repeated restraint stress enhances cue-elicited conditioned freezing and impairs acquisition of extinction in an age-dependent manner
12. Post-weaning social isolation impairs observational fear conditioning
13. ONCOLOGICAL AND FUNCTIONAL OUTCOMES OF THE INTERFASCIAL APPROACH IN ROBOTIC ASSISTED LAPAROSCOPIC RADICAL PROSTATECTOMY COMPARED WITH THE INTRAFASCIAL APPROACH
14. Pharmacological enhancement of calcium-activated potassium channel function reduces the effects of repeated stress on fear memory
15. Prenatal diagnosis of Milroy disease
16. Successful pre-implantation genetic diagnosis for Hirschsprung disease
17. Rubinstein-Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene
18. Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations
19. Spectrum of HLXB9 Gene Mutations in Currarino Syndrome and Genotype-Phenotype Correlation
20. Hirschsprung disease, associated syndromes and genetics: a review: J AMIEL for the International Consortium on Hirschsprung Disease
21. Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability
22. Epistatic Interactions With a Common Hypomorphic Ret Allele in Syndromic Hirschsprung Disease
23. An overview of isolated and syndromic oesophageal atresia
24. Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphism
25. Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders
26. Mutations of the RET gene in isolated and syndromic Hirschsprung’s disease in human disclose major and modifier alleles at a single locus
27. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
28. CHARGE Syndrome Includes Hypogonadotropic Hypogonadism and Abnormal Olfactory Bulb Development
29. Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease
30. Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation
31. Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome
32. Epigenetic abnormalities of the mannose-6-phosphate/IGF2 receptor gene are uncommon in human overgrowth syndromes
33. PMX2B, a new candidate gene for Hirschsprungʼs disease
34. Spectrum of NSD1 mutations in Sotos and Weaver syndromes
35. Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?
36. Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation
37. Dysmorphism, variable overgrowth, normal bone age, and severe developmental delay: a “Sotos-like” syndrome?
38. A CGH study of 27 patients with CHARGE association
39. Impact of new mutations in the methylenetetrahydrofolate reductase gene assessed on biochemical phenotypes: A familial study
40. Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism
41. Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up
42. Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome
43. Scalp-ear-nipple (Finlay-Marks) syndrome: a familial case with renal involvement
44. Blue-red and fuscoceruleus macules: Early cutaneous signs of neurofibromatosis type 1 in childhood.
45. Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome
46. CONDITIONING OF IMMUNOLOGICALLY COMPETENT CELLS BY INCUBATION AT 37°C*
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