225 results on '"Netchine I"'
Search Results
2. Human Fetal Growth Disorders and Imprinting Anomalies
3. Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)
4. Recent Advances in Imprinting Disorders
5. CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome
6. Intellectual functioning of adults with Silver-Russell syndrome due to IGF2/H19 hypomethylation in the 11p15 region
7. Genetic testing in inherited endocrine disorders: Joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)
8. Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)
9. Système IGF et croissance fœtale
10. Pathologies de la signalisation de l’hormone de croissance et de l’IGF-I : aspects cliniques, biologiques et génétiques
11. Ovarian-sparing surgery for ovarian teratoma in children
12. Beckwith-Wiedemann syndrome in association with posterior hypoplasia of the cerebellar vermis
13. Magnetic Resonance Imaging of the Hypothalamic-Pituitary Region in Nontumoral Hypopituitarism
14. CHARGE Syndrome Includes Hypogonadotropic Hypogonadism and Abnormal Olfactory Bulb Development
15. X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood
16. The current landscape of European registries for rare endocrine conditions
17. Recent Advances in Imprinting Disorders
18. Pathologie moléculaire des facteurs de transcription impliqués dans le développement de l'antéhypophyse
19. Disruption of a brain-to-skull LIM-homeobox link in patients with syndromic short stature and a germline mutation in LHX4
20. Effet de la cyproheptadine sur la croissance staturopondérale des enfants atteints du syndrome de Silver-Russell
21. Causes rares d’anomalies de l’empreinte parentale entraînant un retard de croissance à début intra-utérin (RCIU)
22. Caractérisation des miRNAs de GNAS pour essayer de mieux comprendre la physiopathologie de la pseudohypoparathyroïdie 1B (PHP1B)
23. Recent Advances in Imprinting Disorders
24. CO-81 – Anomalies des organes génitaux externes anténatales: évaluation de l'annonce.
25. CO-80 – Évaluation de l'apport de 'échographie anténatale dans le diagnostic des anomalies des organes génitaux externes.
26. P-486 – Étude du comportement alimentaire des enfants avec syndrome de Silver-Russell
27. Germline correction of an epimutation related to Silver-Russell syndrome
28. P310: Étude du comportement alimentaire des enfants ayant un syndrome de Silver-Russell
29. Retard sévère de croissance, déficit psychomoteur, dysmorphie faciale – un cas de duplication de novo 15q21.2–q24.1
30. Panhypopituitarisme congénital par mutation LHX4 : à propos d’un cas
31. PO4-9: Complex tissue-specific epigenotypes in Russell Silver syndrome with 11p15 ICR1 hypomethylation: major consequences for the diagnosis
32. Acute lymphocytic leukaemia in a child with Beckwith–Wiedemann syndrome harbouring a CDKN1C mutation
33. Complex disease phenotype revealed by growth hormone deficiency associated with a novel mutation in the GH-1 gene
34. Pathologie moléculaire du récepteur du GHRH
35. CDKN1Cmutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome
36. Beckwith-Wiedemann Syndrome: Growth Pattern and Tumor Risk according to Molecular Mechanism, and Guidelines for Tumor Surveillance
37. O08 Prévalence et prise en charge des troubles digestifs et nutritionnels chez les enfants ayant un syndrome de Silver-Russell
38. Epigenetics, genomic imprinting and assisted reproductive technology
39. P-83 Study of two IGF-1R gene expression variants
40. P-18 Russell-Silver Syndrome: clinical scoring system and molecular investigations on a large series of patients
41. P-17 Heterogeneous clinical presentation in patients with yet-unreported type 1 IGF receptor molecular defects
42. OR11,2 A central role of insulin-like growth factor-II in embryonic growth and the development of brain and pancreas in zebrafish
43. Olfactory Anomalies in CHARGE Syndrome: Imaging Findings of a Potential Major Diagnostic Criterion
44. Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development
45. Beckwith-Wiedemann Syndrome: Growth Pattern and Tumor Risk according to Molecular Mechanism, and Guidelines for Tumor Surveillance.
46. Extensive Phenotypic Analysis of a Family with Growth Hormone (GH) Deficiency Caused by a Mutation in the GH-Releasing Hormone Receptor Gene
47. Pituitary Stalk Interruption Syndrome: A Clinical-Biological-Genetic Assessment of Its Pathogenesis1
48. Les déficits idiopathiques en hormone de croissance : du phénotype au génotype
49. O08 Prévalence et prise en charge des troubles digestifs et nutritionnels chez les enfants ayant un syndrome de Silver-Russell
50. Multilocus methylation defects in imprinting disorders
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