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Your search keyword '"Drunat S"' showing total 170 results

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170 results on '"Drunat S"'

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1. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

2. Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.

4. Differential impact of drugs on the outcome of ETV6-RUNX1 positive childhood B-cell precursor acute lymphoblastic leukaemia: results of the EORTC CLG 58881 and 58951 trials

5. Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics, (2021), 29, 9, (1332-1336), 10.1038/s41431-021-00901-1)

8. CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

9. Treatment of neonatal diabetes: insulin and sulfonylureas for an holistic treatment approach: INV8

10. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

12. Phenotypic spectrum associated with SPECC1L pathogenic variants:new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes

14. Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome

16. Differential impact of drugs on the outcome of ETV6-RUNX1 positive childhood B-cell precursor acute lymphoblastic leukaemia: results of the EORTC CLG 58881 and 58951 trials

17. WDR81 mutations cause microlissencephaly and microcephaly and impair mitotic progression in neural progenitors

18. Xq28 duplication includingMECP2in six unreported affected females: what can we learn for diagnosis and genetic counselling?

19. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

20. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

21. Are all Xq26.2 duplications overlapping <italic>GPC3</italic> on array‐CGH a cause of Simpson‐Golabi‐Behmel syndrome? When do we need transcript analysis?

22. PP12.10 – 2930: Expansion of the spectrum of TUBB4A mutations-related phenotype in hypomyelinating leukodystophy with atrophy of basal ganglia and cerebellum

23. Update on Kleefstra Syndrome

25. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

26. O40 – 2159 Hypomyelinating leukodystrophy due to recessive mutations of GJC2 (connexin 47): clinical and radiological characteristics in 18 patients

27. Leucodystrophies hypomyélinisantes liées aux mutations récessives de GJC2 (connexine 47) : particularités clinicoradiologiques à propos d’une série de 17 cas

28. Breakpoint-specific multiplex polymerase chain reaction allows the detection of IKZF1 intragenic deletions and minimal residual disease monitoring in B-cell precursor acute lymphoblastic leukemia

30. Update on Kleefstra Syndrome

32. SFCE-P23 – Hématologie, immunologie – Greffe de cellules souches hématopoïétiques (CSH) haplo-identiques après conditionnement d’intensité réduite (ric) et double sélection négative CD3/CD19

38. Exome Pool-Seq Reloaded

39. High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters

40. 190P Spectrum of phenotypes in SMA patients with four SMN2 copies in France (Registre SMA France).

41. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related Autosomal Recessive Ectodermal Dysplasia 14

42. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

43. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

44. Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families.

45. New ZNHIT3 Variants Disrupting snoRNP Assembly Cause Prenatal PEHO Syndrome with Isolated Hydrops.

46. Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder.

47. Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy.

48. Mcph1, mutated in primary microcephaly, is also crucial for erythropoiesis.

49. Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.

50. Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.

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