770 results on '"Ropers, Hans‐Hilger"'
Search Results
2. Variants in CUL4B are Associated with Cerebral Malformations
3. A mouse model for intellectual disability caused by mutations in the X-linked 2′‑O‑methyltransferase Ftsj1 gene
4. Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder
5. Genetics of intellectual disability in consanguineous families
6. UniGene cDNA Array-Based Monitoring of Transcriptome Changes during Mouse Placental Development
7. The Opitz Syndrome Gene Product, MID1, Associates with Microtubules
8. Erratum: Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 (Human Genetics and Genomics Advances (2021) 2(2), (S2666247721000051), (10.1016/j.xhgg.2021.100024))
9. Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3
10. Epilepsy and Mental Retardation Limited to Females: An Under-Recognized Disorder
11. Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans
12. The Norrie Disease Gene: Positional Cloning, Mutation Analysis and Protein Homologies
13. 4. Themenbereich Gendiagnostik: Hochdurchsatz-Sequenzierung – eine Chance für die genetische Krankenversorgung in Deutschland
14. Technische Probleme und medizinische Möglichkeiten
15. Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability
16. Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population
17. A New Chromosome X Exon-Specific Microarray Platform for Screening of Patients with X-Linked Disorders
18. Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene POU3F4
19. Chromosomal Jumping from the DXS165 Locus Allows Molecular Characterization of Four Microdeletions and a de novo Chromosome X/13 Translocation Associated with Choroideremia
20. CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling
21. Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia
22. On the future of genetic risk assessment
23. Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots
24. Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature
25. A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation
26. WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
27. Cranioectodermal dysplasia, sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene
28. Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
29. Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum
30. A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH
31. Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3
32. Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation
33. Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly
34. A defect in the TUSC3 gene is associated with autosomal recessive mental retardation
35. Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
36. Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region
37. Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation
38. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome
39. Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
40. Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy
41. A defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2)is associated with autosomal recessive mental retardation
42. New perspective for the elucidation of genetic disorder
43. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome
44. Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH
45. Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly
46. Breakpoint cloning and haplotype analysis indicate a single origin of the common inv(10)(p11.2q21.2) mutation among northern Europeans
47. ZNF674: a new Kruppel-associated box-containing zinc-finger gene involved in nonsyndromic x-linked mental retardation
48. Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
49. Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon
50. Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.