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Academic Journal

A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing.

  • Authors : Kubo Y; 1] Branch of Genetic Medicine, Advanced Biomedical Engineering and Science, Graduate School of Medicine and Global Center of Excellence (COE) program, Tokyo Women's Medical University, Tokyo, Japan [2] Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan [3] Technical Research Institute, Toppan Printing Co., Ltd, Saitama, Japan.; Nishio H

Subjects: DNA Mutational Analysis*; Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/*genetics ; Survival of Motor Neuron 1 Protein/Survival of Motor Neuron 1 Protein/Survival of Motor Neuron 1 Protein/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2015 May; Vol. 60 (5), pp. 233-9. Date of Electronic Publication: 2015 Feb 26.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Commentary on the mutation spectrum of and founder effects affecting the PTS gene in East-Asian populations.

  • Authors : Shintaku H; Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.

Subjects: Asian People* ; DNA Mutational Analysis* ; Founder Effect*

  • Source: Journal of human genetics [J Hum Genet] 2012 Mar; Vol. 57 (3), pp. 159-60. Date of Electronic Publication: 2012 Feb 16.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.

  • Authors : Chiu YH; Institute of Genetics, National Yang-Ming University, Taipei, Taiwan.; Chang YC

Subjects: Asian People* ; DNA Mutational Analysis* ; Founder Effect*

  • Source: Journal of human genetics [J Hum Genet] 2012 Feb; Vol. 57 (2), pp. 145-52. Date of Electronic Publication: 2012 Jan 12.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening.

  • Authors : Thodi G; Laboratory of Prenatal and Neonatal Screening, Neoscreen Ltd, Athens, Greece.; Molou E

Subjects: DNA Mutational Analysis* ; Neonatal Screening*; Biotinidase/Biotinidase/Biotinidase/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2011 Dec; Vol. 56 (12), pp. 861-5. Date of Electronic Publication: 2011 Oct 20.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree.

  • Authors : Mori S; Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.; Nakamura M

Subjects: Chromosome Mapping* ; DNA Mutational Analysis* ; Genome-Wide Association Study*

  • Source: Journal of human genetics [J Hum Genet] 2011 Oct; Vol. 56 (10), pp. 742-7. Date of Electronic Publication: 2011 Aug 18.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.

  • Authors : Wang LH; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China.; Huang YQ

Subjects: DNA Mutational Analysis*; Adenosine Triphosphatases/Adenosine Triphosphatases/Adenosine Triphosphatases/*genetics ; Cation Transport Proteins/Cation Transport Proteins/Cation Transport Proteins/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2011 Sep; Vol. 56 (9), pp. 660-5. Date of Electronic Publication: 2011 Jul 28.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.

  • Authors : Liu MY; Institute of Genetics, National Yang-Ming University, Taipei, Taiwan.; Yang YL

Subjects: DNA Mutational Analysis*; Carrier Proteins/Carrier Proteins/Carrier Proteins/*genetics; Alleles Methylmalonic acidemia with homocystinuria

  • Source: Journal of human genetics [J Hum Genet] 2010 Sep; Vol. 55 (9), pp. 621-6. Date of Electronic Publication: 2010 Jul 15.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Commentary on 'Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center'.

  • Authors : Kondo-Iida E; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

Subjects: DNA Mutational Analysis* ; Mutation*; Dystrophin/Dystrophin/Dystrophin/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2010 Sep; Vol. 55 (9), pp. 555-6. Date of Electronic Publication: 2010 Jun 17.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Linkage analysis and mutation screening of the rhodopsin gene in a Chinese Bai family with autosomal dominant retinitis pigmentosa.

  • Authors : Guo H; Department of Ophthalmology, Guangdong Eye Institute, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangdong, PR China. ; Qin Y

Subjects: DNA Mutational Analysis* ; Genetic Linkage*; Retinitis Pigmentosa/Retinitis Pigmentosa/Retinitis Pigmentosa/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2010 Sep; Vol. 55 (9), pp. 571-6. Date of Electronic Publication: 2010 Jun 17.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

  • Authors : Kuniba H; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.; Yoshiura K

Subjects: DNA Mutational Analysis*; Abnormalities, Multiple/Abnormalities, Multiple/Abnormalities, Multiple/*genetics; Chromosome Aberrations

  • Source: Journal of human genetics [J Hum Genet] 2009 May; Vol. 54 (5), pp. 304-9. Date of Electronic Publication: 2009 Apr 03.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  348 results for ""DNA mutational analysis""