510 results on '"Odent S"'
Search Results
2. ARID1B-related disorder in 87 adults: Natural history and self-sustainability
3. Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples
4. Suivi gynécologique des patientes atteintes d’un spina bifida
5. Involvement and alteration of the Sonic Hedgehog pathway is associated with decreased cholesterol level in trisomy 18 and SLO amniocytes
6. Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients
7. Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations
8. Gene dosage effects in 46, XY DSD: usefulness of CGH technologies for diagnosis
9. Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing
10. Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey
11. A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome
12. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management
13. Fetal phenotypes in otopalatodigital spectrum disorders
14. Prevalence and management of gastrointestinal manifestations in Silver–Russell syndrome
15. Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease
16. Deep intronic KRIT1 mutation in a family with clinically silent multiple cerebral cavernous malformations
17. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia
18. Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays
19. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
20. CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders
21. What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?
22. Diagnosis of fetal urinary tract malformations: prenatal management and postnatal outcome
23. Pediatric outcome of children with the prenatal diagnosis of isolated septal agenesis
24. Delineation of 15q13.3 microdeletions
25. Progressive Osseous Heteroplasia: A Model for the Imprinting Effects of GNAS Inactivating Mutations in Humans
26. Mutation Update for the CSB/ERCC6 and CSA/ERCC8 Genes Involved in Cockayne Syndrome
27. 2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?
28. Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy
29. Embryology of neural tube defects: information provided by associated malformations
30. Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome
31. Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype
32. First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations
33. Sporadic optic atrophy due to synonymous codon change altering mRNA splicing of OPA1
34. Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome
35. Architecture génétique de l’insuffisance ovarienne primitive à partir d’une large cohorte de 375 patientes : nouveaux gènes et voies moléculaires identifiés, implication pour une médecine personnalisée
36. Spectrum of NSD1 mutations in Sotos and Weaver syndromes
37. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency
38. Sulphate transporter gene mutations in apparently isolated club foot
39. Analysis of 160 CF chromosomes: detection of a novel mutation in exon 20
40. Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28
41. Angioedeme par mutation du facteur XII : caractéristiques de la pathologie chez les sujets de sexe masculin
42. 443 - Long-term outcomes of artificial urinary sphincter in female patients with spina bifida
43. Psycho-social impact of predictive genetic testing in hereditary heart diseases (PREDICT Study)
44. Trisomy 15qter Including the IGF1 Receptor Gene and Overgrowth: Report of Two Families and Review of the Literature
45. Identification of the gene for Oral-facial-digital type I syndrome (OFD1)
46. Heterozygous PITX2/RIEG1 gene deletion associated with GH deficiency in Rieger syndrome
47. Phenotypical variability in loci of holoprosencephaly
48. Genetic spectrum of hypertrophic cardiomyopathy revisited. Whole Exome Sequencing reveals extreme genetic heterogeneity, new gene mutations in a multicenter series of 200 patients
49. Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.
50. Résultats à long terme du sphincter urinaire artificiel chez les patients spina bifida de sexe masculin
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