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Academic Journal

[Constitutional mismatch repair-deficiency syndrome (CMMR-D) - a case report of a family with biallelic MSH6 mutation].

  • Authors : Ilenčíková D; II. detská klinika, LF UK a DFNsP Bratislava, Slovenská republika.

Subjects: Mutation*; Brain Neoplasms/Brain Neoplasms/Brain Neoplasms/*genetics ; DNA Repair-Deficiency Disorders/DNA Repair-Deficiency Disorders/DNA Repair-Deficiency Disorders/*genetics

  • Source: Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti [Klin Onkol] 2012; Vol. 25 Suppl, pp. S34-8.Publisher: Ceská lékarská spolecnost Country of Publication: Czech Republic NLM ID: 9425213 Publication Model: Print Cited Medium: Print ISSN:

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Academic Journal

[Myotonic dystrophy and myotonin kinase protein gene mutation].

  • Authors : Ruscák J; Neurologické oddelenie Nemocnice s poliklinikou v Dunajskej Strede, Slovakia.

Subjects: Mutation* ; Protein Serine-Threonine Kinases*; Myotonic Dystrophy/Myotonic Dystrophy/Myotonic Dystrophy/*genetics

  • Source: Bratislavske lekarske listy [Bratisl Lek Listy] 1997 May; Vol. 98 (5), pp. 274-7.Publisher: AEP Press Country of Publication: Slovakia NLM ID: 0065324 Publication Model: Print Cited Medium: Print ISSN: 0006-9248 (Print)

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Academic Journal

[Identification of a de novo mutation in a factor FVIII:C gene in a family requesting prenatal diagnosis of hemophilia A].

Subjects: Mutation* ; Prenatal Diagnosis*; Factor VIII/Factor VIII/Factor VIII/*genetics

  • Source: Bratislavske lekarske listy [Bratisl Lek Listy] 1992 Sep; Vol. 93 (9), pp. 459-62.Publisher: AEP Press Country of Publication: Slovakia NLM ID: 0065324 Publication Model: Print Cited Medium: Print ISSN: 0006-9248 (Print)

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Academic Journal

[The delta F508 mutation which causes cystic fibrosis and its association with closely linked DNA polymorphisms in the Slovak population].

  • Authors : Kádasi L; Ustav molekulárnej fyziológie a genetiky SAV, Bratislave, CSFR.; Gécz J

Subjects: Linkage Disequilibrium* ; Mutation* ; Polymorphism, Genetic*

  • Source: Bratislavske lekarske listy [Bratisl Lek Listy] 1992 Mar; Vol. 93 (3), pp. 141-5.Publisher: AEP Press Country of Publication: Slovakia NLM ID: 0065324 Publication Model: Print Cited Medium: Print ISSN: 0006-9248 (Print)

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Academic Journal

[Our experience with detection of JAK2 mutations in paraffin-embedded trephine bone marrow biopsies of patients with chronic myeloproliferative disorders].

Subjects: Mutation*; Janus Kinase 2/Janus Kinase 2/Janus Kinase 2/*genetics ; Myeloproliferative Disorders/Myeloproliferative Disorders/Myeloproliferative Disorders/*genetics

  • Source: Ceskoslovenska patologie [Cesk Patol] 2011 Jul; Vol. 47 (3), pp. 115-7.Publisher: Ceska Lekarska Spolecnost Country of Publication: Czech Republic NLM ID: 0050734 Publication Model: Print Cited Medium: Print ISSN:

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Academic Journal

[Acute myeloblastic leukaemia with alternations of MLL proto-oncogene protein (11q23/MLL+ AML)].

  • Authors : Mikulásová Z; Oddelenie onkologickej genetiky, Národný onkologický ústav, Bratislava, Slovenská republika.; Ilencíková D

Subjects: Mutation*; Leukemia, Myeloid, Acute/Leukemia, Myeloid, Acute/Leukemia, Myeloid, Acute/*genetics ; Myeloid-Lymphoid Leukemia Protein/Myeloid-Lymphoid Leukemia Protein/Myeloid-Lymphoid Leukemia Protein/*genetics

  • Source: Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti [Klin Onkol] 2010; Vol. 23 (6), pp. 401-7.Publisher: Ceská lékarská spolecnost Country of Publication: Czech Republic NLM ID: 9425213 Publication Model: Print Cited Medium: Print ISSN:

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Academic Journal

[The spectrum of mutations in the CFTR gene in patients with cystic fibrosis in Slovakia].

  • Authors : Kádasi L; Ustav molekulárnej fyziológie a genetiky Slovenskej akadémie vied v Bratislave.; Poláková H

Subjects: Mutation*; Cystic Fibrosis/Cystic Fibrosis/Cystic Fibrosis/*genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/Cystic Fibrosis Transmembrane Conductance Regulator/Cystic Fibrosis Transmembrane Conductance Regulator/*genetics

  • Source: Bratislavske lekarske listy [Bratisl Lek Listy] 1998 Jan; Vol. 99 (1), pp. 33-6.Publisher: AEP Press Country of Publication: Slovakia NLM ID: 0065324 Publication Model: Print Cited Medium: Print ISSN: 0006-9248 (Print)

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Academic Journal

[DNA analysis in classic phenylketonuria--screening for mutations and haplotype analysis in Slovak families].

Subjects: Haplotypes* ; Mutation*; DNA/DNA/DNA/*analysis

  • Source: Bratislavske lekarske listy [Bratisl Lek Listy] 1994 Apr; Vol. 95 (4), pp. 147-50.Publisher: AEP Press Country of Publication: Slovakia NLM ID: 0065324 Publication Model: Print Cited Medium: Print ISSN: 0006-9248 (Print)

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Academic Journal

[On the problem of genetic determination of the pathogenicity of dermatophytes].

Subjects: Genetics, Microbial* ; Mutation*; Microsporum/Microsporum/Microsporum/*pathogenicity

  • Source: Ceskoslovenska dermatologie [Cesk Dermatol] 1968 Jun; Vol. 43 (3), pp. 171-3.Publisher: Czech Medical Society Country of Publication: Czech Republic NLM ID: 0067753 Publication Model: Print Cited Medium: Print ISSN:

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Academic Journal

[Dominant lethal test after peroral administration of arsenic (author's transl)].

Subjects: Arsenic*/Arsenic*/Arsenic*/administration & dosage; Embryo Implantation/Embryo Implantation/Embryo Implantation/*drug effects ; Embryo, Mammalian/Embryo, Mammalian/Embryo, Mammalian/*drug effects

  • Source: Bratislavske lekarske listy [Bratisl Lek Listy] 1977 Feb; Vol. 67 (2), pp. 179-87.Publisher: AEP Press Country of Publication: Slovakia NLM ID: 0065324 Publication Model: Print Cited Medium: Print ISSN: 0006-9248 (Print)

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  • 1-10 of  148 results for ""Mutation""