728 results on '"Antonarakis, S."'
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2. Hearing Loss Is Not an Obligatory Hallmark of SPATA5 Early-Onset Epileptic Encephalopathy with Microcephaly and Hypomyelination
3. Direct Characterization of Factor VIII in Plasma: Detection of a Mutation Altering a Thrombin Cleavage Site (arginine-372 → histidine)
4. Guidelines for investigating causality of sequence variants in human disease
5. Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders
6. Trapping and sequence analysis of 1138 putative exons from human chromosome 18
7. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study
8. Pathogenic variants in non-protein-coding sequences
9. Nomenclature for the description of human sequence variations
10. Frequency of replication/transcription errors in (A)/(T) runs of human genes
11. Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes
12. Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes
13. Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes
14. The DNA sequence of human chromosome 21
15. De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features
16. Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1
17. A method for the extraction of genomic DNA from human brain tissue fixed and stored in formalin for many years
18. A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy: 203
19. Early-onset dementias: clinical, neuropathological and genetic characteristics
20. Epistatic Interactions With a Common Hypomorphic Ret Allele in Syndromic Hirschsprung Disease
21. Posterpräsentation
22. Structure of the human CRFB4 gene: Comparison with its IFNAR neighbor
23. Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions
24. Detection of aneuploidies by paralogous sequence quantification
25. Transcriptome modifications in postnatal cerebellum devleopment of Ts1Cje mice, a model for Trisomy 21
26. Association of the connexin36 gene with juvenile myoclonic epilepsy
27. Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome
28. Chromatin three-dimensional interactions mediate genetic effects on gene expression
29. A Gene Which Causes Severe Ocular Alterations and Occipital Encephalocele (Knobloch Syndrome) is Mapped to 21q22.3
30. Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder
31. Intra- and inter-chromosomal chromatin interactions mediate genetic effects on regulatory networks
32. SHANK3 mutation in consanguineous schizophrenia family in northwest Algeria
33. No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients
34. On PREDs and ORFs of human chromosome 21
35. Molecular dissection of the contribution of single genes to changes in global gene expression in Down syndrome
36. Post sequencing gene discovery; novel genes in human chromosome 21 (HC21)
37. The topographical expression map of chromosome 21 genes
38. Mutations in the TMPRSS3 gene are a rare cause of childhood non-syndromic deafness in Caucasian patients
39. Human chromosome 21: Linkage mapping and cloning in yeast artificial chromosomes
40. Identification de nouveaux gènes impliqués dans les carcinomes basocellulaires sporadiques
41. Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders
42. Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)]
43. The human gene encoding insulin-like growth factor I is located on chromosome 12
44. A LARGE GENOMIC DELETION UPSTREAM OF THE LAMIN B1 GENE (LMNB1) LIKELY CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY DUE TO ALTERATION OF THE REGULATORY LANDSCAPE OF LMNB1
45. Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.
46. UNA DELEZIONE DI 660 KB A MONTE DEL GENE LAMINA B1 (LMNB1) HA UN EFFETTO ANALOGO ALLA SUA DUPLICAZIONE GENICA E CAUSA LEUCODISTROFIA AUTOSOMICA DOMINANTE DELL’ADULTO (ADLD)
47. Uncovering recessive likely pathogenic variants, using microdeletion sindrome with unusual phenotypes
48. CLINICAL, NEURORADIOLOGICAL AND MOLECULAR INVESTIGATION OF ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): DISSECTION OF LAMIN B1-MEDIATED PATHOPHYSIOLOGICAL MECHANISMS IN CELLULAR AND MOUSE MODELS
49. Consangunity and psychosis in Algeria. A family study
50. Wes of a Consanguineous Family with Schizophrenia and Mental Retardation in North Algeria.
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