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1. Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

2. ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder

3. Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?

4. Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia

5. A Comparative Study on Culture Conditions and Routine Expansion of Amniotic Fluid-Derived Mesenchymal Progenitor Cells

7. Cytogenetic and morphological analysis of early products of conception following hystero-embryoscopy from couples with recurrent pregnancy loss

8. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

9. NRAS Mutations in Noonan Syndrome

10. Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

11. Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated

12. MLL2 Mutation Spectrum in 45 Patients with Kabuki Syndrome

13. Oculocerebral Hypopigmentation Syndrome Maps to Chromosome 3q27.1q29

14. Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH)

15. 2q31.1 microdeletion syndrome: redefining the associated clinical phenotype

16. More on Clinical Renal Genetics

17. Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome

18. FOXD1 Duplication Causes Branchial Defects and Interacts with the TFAP2A Gene Implicated in the Branchio-Oculo-Facial Syndrome in Causing Eye Effects in Zebrafish

19. Prenatal diagnosis and pulmonary pathology in congenital high airway obstruction sequence

20. A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation

21. Diagnosis of miscarriages by molecular karyotyping: Benefits and pitfalls

22. Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

23. Angelman syndrome (AS, MIM 105830)

24. Chromosome instability is common in human cleavage-stage embryos

25. Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome

26. Cerebellar Hypoplasia in a Patient with Velo-Cardio-Facial Syndrome

27. Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH

28. Vocal cord paralysis and cystic kidney disease in Hajdu-Cheney syndrome

29. On two patients with and without the classical Wolf-Hirschhorn syndrome (WHS) sharing the same chromosome 4p16.3 specific probe deletion: evidence of a contiguous gene deletion syndrome

30. Cohen syndrome: the clinical symptoms and stigmata at a young age

31. De novo 46,XX, dir dup (11)(q13.3→q14.2) in a patient with mental retardation, congenital cardiopathy and thrombopenia

32. Mild phenotype and normal gonadal function in females with 4p trisomy due to unbalanced t(X;4)(p22.1;p14)

33. Neuropathological findings in Moebius syndrome

34. Association of Meckel syndrome with M-anisosplenia in one patient

35. A new lethal chondrodysplasia with spondylocostal dysostosis, multiple internal anomalies and Dandy-Walker cyst

36. Effect of balanced X/autosome translocations on sexual and physical development

37. Variable expression of the popliteal pterygium syndrome in two 3-generation families

38. Alopecia-mental retardation syndrome associated with convulsions and hypergonadotropic hypogonadism

39. Genetic control over fragile X chromosome expression

40. Autosomal whole arm translocations in man

41. Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

42. Audiological outcomes after cochlear implantation in a patient with Melnick-Needles syndrome

43. Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)

44. Human chromosome fragility

45. Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage ofXLMRgenes

46. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype

47. The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly

48. Partial duplications of the ATRX gene cause the ATR-X syndrome

49. The C20orf133 gene is disrupted in a patient with Kabuki syndrome

50. Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation

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