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zadetkov: 35
1.
  • Contributions of intrinsic ... Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline
    Giannoulatou, Eleni; McVean, Gilean; Taylor, Indira B. ... Proceedings of the National Academy of Sciences - PNAS, 12/2013, Letnik: 110, Številka: 50
    Journal Article
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    The RAS proto-oncogene Harvey rat sarcoma viral oncogene homolog (HRAS) encodes a small GTPase that transduces signals from cell surface receptors to intracellular effectors to control cellular ...
Celotno besedilo
Dostopno za: BFBNIB, NMLJ, NUK, PNG, SAZU, UL, UM, UPUK

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2.
  • ZNF469 frequently mutated i... ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components
    Rohrbach, Marianne; Spencer, Helen L.; Porter, Louise F. ... Molecular genetics and metabolism, 07/2013, Letnik: 109, Številka: 3
    Journal Article
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    Brittle cornea syndrome (BCS; MIM 229200) is an autosomal recessive generalized connective tissue disorder caused by mutations in ZNF469 and PRDM5. It is characterized by extreme thinning and ...
Celotno besedilo
Dostopno za: GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPUK

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3.
  • Mutations in PRDM5 in Britt... Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance
    BURKITT WRIGHT, Emma M. M; SPENCER, Helen L; MADDEN, Colm ... American journal of human genetics, 06/2011, Letnik: 88, Številka: 6
    Journal Article
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    Extreme corneal fragility and thinning, which have a high risk of catastrophic spontaneous rupture, are the cardinal features of brittle cornea syndrome (BCS), an autosomal-recessive generalized ...
Celotno besedilo
Dostopno za: GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPUK, ZAGLJ, ZRSKP

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4.
  • Perceived fatigue in childr... Perceived fatigue in children and young adults with neurofibromatosis type 1
    Vassallo, Grace; Mughal, Zulf; Robinson, Louise ... Journal of paediatrics and child health, June 2020, 2020-Jun, 2020-06-00, 20200601, Letnik: 56, Številka: 6
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    Aim This study describes the prevalence and severity of perceived fatigue in a young neurofibromatosis type 1 (NF1) population. Methods Ethical approval was obtained and NF1 affected Individuals aged ...
Celotno besedilo
Dostopno za: BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK

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5.
  • Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders
    Molina-Ramírez, Leslie Patricia; Kyle, Claire; Ellingford, Jamie M ... Journal of medical genetics, 04/2022, Letnik: 59, Številka: 4
    Journal Article
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    The increased adoption of genomic strategies in the clinic makes it imperative for diagnostic laboratories to improve the efficiency of variant interpretation. Clinical exome sequencing (CES) is ...
Celotno besedilo
Dostopno za: NUK, UL, UM, UPUK

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6.
  • Brittle cornea syndrome: re... Brittle cornea syndrome: recognition, molecular diagnosis and management
    Burkitt Wright, Emma M M; Porter, Louise F; Spencer, Helen L ... Orphanet journal of rare diseases, 05/2013, Letnik: 8, Številka: 1
    Journal Article
    Recenzirano
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    Brittle cornea syndrome (BCS) is an autosomal recessive disorder characterised by extreme corneal thinning and fragility. Corneal rupture can therefore occur either spontaneously or following minimal ...
Celotno besedilo
Dostopno za: IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK

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7.
Celotno besedilo
Dostopno za: BFBNIB, DOBA, FZAB, GIS, IJS, IZUM, KILJ, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBMB, SIK, UILJ, UKNU, UL, UM, UPUK

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8.
  • Neonatal lethal Costello sy... Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val
    Burkitt-Wright, Emma M.M.; Bradley, Lisa; Shorto, Jennifer ... American journal of medical genetics. Part A, 20/May , Letnik: 158A, Številka: 5
    Journal Article
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    De novo heterozygous mutations in HRAS cause Costello syndrome (CS), a condition with high mortality and morbidity in infancy and early childhood due to cardiac, respiratory, and muscular ...
Celotno besedilo
Dostopno za: BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK

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9.
  • Clinical and neuroradiologi... Clinical and neuroradiological characterisation of spinal lesions in adults with Neurofibromatosis type 1
    Curtis-Lopez, Carlos M.; Soh, Calvin; Ealing, John ... Journal of clinical neuroscience, 07/2020, Letnik: 77
    Journal Article
    Recenzirano

    •This is the largest reported descriptive study to date of spinal lesions in NF1.•Cutaneous lesions are the most commonly reported clinical feature in NF1.•Spinal tumours (mostly cervical or lumbar) ...
Celotno besedilo
Dostopno za: GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPUK, ZAGLJ, ZRSKP
10.
  • Delineation of dominant and... Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome
    Pagnamenta, Alistair T.; Kaisaki, Pamela J.; Bennett, Fenella ... Clinical genetics, June 2019, Letnik: 95, Številka: 6
    Journal Article
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    Noonan syndrome (NS) is characterised by distinctive facial features, heart defects, variable degrees of intellectual disability and other phenotypic manifestations. Although the mode of inheritance ...
Celotno besedilo
Dostopno za: BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK

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zadetkov: 35

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