639 results on '"Ropers, H-H"'
Search Results
2. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
3. Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree
4. Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism
5. Screening of ARX in mental retardation families: consequences for the strategy of molecular diagnosis
6. A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females
7. Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations
8. A clinical and molecular genetic study of 112 Iranian families with primary microcephaly
9. Screening Chromosomal Aberrations by Array Comparative Genomic Hybridization in 80 Patients with Congenital Hypothyroidism and Thyroid Dysgenesis
10. Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome
11. Hypergonadotropic hypogonadism in a patient with inv ins (2;4)
12. High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease
13. Alopecia–mental retardation syndrome: clinical and molecular characterization of four patients
14. A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene
15. Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood
16. Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe
17. Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome
18. Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity
19. A complex phenotype with cystic renal disease
20. 4q35 deletion and 10p15 duplication associated with immunodeficiency
21. Breakpoints around the HOXD cluster result in various limb malformations
22. Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris
23. Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies
24. Localization of X chromosome short arm markers relative to synovial sarcoma- and renal adenocarcinoma-associated translocation breakpoints
25. Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q
26. Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate
27. The Ins and Outs of X-Linked Deafness Type 3
28. Abnormal Behavior Associated with a Point Mutation in the Structural Gene for Monoamine Oxidase A
29. Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome
30. Physical fine mapping of genes underlying X-linked deafness and non fra(X)-X-linked mental retardation at Xq21
31. Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation
32. Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13)
33. Linkage analysis in X-linked adrenoleukodystrophy and application in post-and prenatal diagnosis
34. Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation
35. Cloning of the breakpoints of a deletion associated with choroideremia
36. A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation
37. Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome
38. Genetic linkage with chromosome 19 but not chromosome 17 in a family with myotonic dystrophy associated with hereditary motor and sensory neuropathy
39. Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes
40. A gene for hereditary non-chromaffin paragangliomas, a disorder subject to genomic imprinting, maps at 11q13.1
41. Genomdiagnostik
42. Propionacidämie mit hypertrophischer Pylorusstenose und Entgleisungen im Glukosestoffwechsel
43. Inheritance of the S-Form of NADP-Dependent Isocitrate Dehydrogenase Polymorphism in Rainbow Trout
44. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
45. Mutations in [Alpha]PIX, encoding a guanine nucleotide exchange factor for Rho GT-Pases, in patients with X-linked mental retardation
46. Towards identification of individual homologous chromosomes: comparative genomic hybridization and spectral karyotyping discriminate between paternal and maternal euchromatin in Mus musculus x M. spretus interspecific hybrids
47. Progressive myoclonus epilepsy: A variant with probable X-linked inheritance
48. Regional assignment of the gene locus for steroid sulfatase
49. Linkage studies in a family with X-linked recessive ichthyosis employing a cloned DNA sequence from the distal short arm of the X chromosome
50. Regional localisation of X chromosome short arm probes
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