scholarly article | Q13442814 |
review article | Q7318358 |
P356 | DOI | 10.1093/HMG/DDP071 |
P8608 | Fatcat ID | release_crlshb7e4vf7zfa66lj4kihr5y |
P932 | PMC publication ID | 2657946 |
P698 | PubMed publication ID | 19297402 |
P5875 | ResearchGate publication ID | 24211344 |
P50 | author | Jozef Gécz | Q16230617 |
Michael Stratton | Q6834656 | ||
Annabel Whibley | Q55692044 | ||
P2093 | author name string | F Lucy Raymond | |
P2860 | cites work | Emergence of young human genes after a burst of retroposition in primates | Q21092789 |
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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 | Q22337290 | ||
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation | Q24309324 | ||
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation | Q24612060 | ||
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation | Q24613870 | ||
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus | Q24651919 | ||
Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation | Q24671723 | ||
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly | Q24678235 | ||
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus | Q24682652 | ||
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor | Q28284058 | ||
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Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. | Q33910551 | ||
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Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome | Q34044794 | ||
Nonsyndromic X-linked mental retardation: where are the missing mutations? | Q34205119 | ||
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SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome | Q36718915 | ||
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Epstein-Barr virus promotes genomic instability in Burkitt's lymphoma | Q40165999 | ||
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11. | Q40232805 | ||
Hypothesis: a novel route for immortalization of epithelial cells by Epstein-Barr virus | Q40750248 | ||
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum | Q41938326 | ||
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene | Q43232391 | ||
AutoCSA, an algorithm for high throughput DNA sequence variant detection in cancer genomes. | Q51915522 | ||
P275 | copyright license | Creative Commons Attribution-NonCommercial | Q6936496 |
P433 | issue | R1 | |
P921 | main subject | cell | Q7868 |
biomedical investigative technique | Q66648976 | ||
P304 | page(s) | R60-4 | |
P577 | publication date | 2009-04-01 | |
2009-04-15 | |||
P1433 | published in | Human Molecular Genetics | Q2720965 |
P1476 | title | Lessons learnt from large-scale exon re-sequencing of the X chromosome | |
P478 | volume | 18 |
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Q37861644 | Zebrafish as a genomics model for human neurological and polygenic disorders |