نتائج البحث - "Barber, J. C. K."

1

Academic Journal

Directly transmitted unbalanced chromosome abnormalities and euchromatic variants

المؤلفون: Barber, J C K

مصطلحات موضوعية: Reviews

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/42/8/609; http://dx.doi.org/10.1136/jmg.2004.026955

الاتاحة: http://jmg.bmj.com/cgi/content/short/42/8/609
https://doi.org/10.1136/jmg.2004.026955

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2

Academic Journal

Absence of 22q11 deletions in 211 patients with developmental delay analysed using PCR

المؤلفون: Waite, S J, Thomas, N S, Barber, J C K

مصطلحات موضوعية: Electronic letters

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/39/4/e18; http://dx.doi.org/10.1136/jmg.39.4.e18

الاتاحة: http://jmg.bmj.com/cgi/content/short/39/4/e18
https://doi.org/10.1136/jmg.39.4.e18

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3

Academic Journal

Catalogue of Unbalanced Chromosome Aberrations in Man: 2nd edition. Albert Schinzel. (Pp 966; SFr 397.) Berlin: Walter de Gruyter, 2001. ISBN 3-11-011607-3.

المؤلفون: Barber, J. C K

المصدر: Journal of Medical Genetics ; volume 39, issue 5, page 375-375 ; ISSN 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.39.5.375
https://syndication.highwire.org/content/doi/10.1136/jmg.39.5.375

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4

Academic Journal

Medical genetics: advances in brief: Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

المؤلفون: Barber, J. C K

المصدر: Journal of Medical Genetics ; volume 33, issue 7, page 628-629 ; ISSN 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.33.7.628-c
https://syndication.highwire.org/content/doi/10.1136/jmg.33.7.628-c

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5

Academic Journal

Medical genetics: advances in brief: Human homolog of patched, a candidate gene for the basal cell nevus syndrome

المؤلفون: Barber, J. C K

المصدر: Journal of Medical Genetics ; volume 33, issue 11, page 975-975 ; ISSN 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.33.11.975-a
https://syndication.highwire.org/content/doi/10.1136/jmg.33.11.975-a

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6

Academic Journal

Medical genetics: advances in brief: Mutations in the dystrophin-associated protein -sarcoglycan in chromosome 13 muscular dystrophy

المؤلفون: Barber, J. C K

المصدر: Journal of Medical Genetics ; volume 33, issue 3, page 260-260 ; ISSN 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.33.3.260-a
https://syndication.highwire.org/content/doi/10.1136/jmg.33.3.260-a

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7

Academic Journal

Medical genetics: advances in brief

المؤلفون: Barber, J. C K

المصدر: Journal of Medical Genetics ; volume 32, issue 1, page 75-76 ; ISSN 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.32.1.75-c
https://syndication.highwire.org/content/doi/10.1136/jmg.32.1.75-c

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8

Academic Journal

Medical genetics: advances in brief: Diagnosis of human genetic disease using recombinant DNA. Fourth edition

المؤلفون: Barber, J C K

مصطلحات موضوعية: Abstracts

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/31/1/83-a; http://dx.doi.org/10.1136/jmg.31.1.83-a

الاتاحة: http://jmg.bmj.com/cgi/content/short/31/1/83-a
https://doi.org/10.1136/jmg.31.1.83-a

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9

Academic Journal

Medical genetics: advances in brief

المؤلفون: Barber, J. C K

المصدر: Journal of Medical Genetics ; volume 31, issue 8, page 656-657 ; ISSN 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.31.8.656-d
https://syndication.highwire.org/content/doi/10.1136/jmg.31.8.656-d

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10

Academic Journal

Medical genetics: advances in brief: Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch-Nyhan syndrome

المؤلفون: Barber, J. C K

المصدر: Journal of Medical Genetics ; volume 30, issue 5, page 444-444 ; ISSN 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.30.5.444-a
https://syndication.highwire.org/content/doi/10.1136/jmg.30.5.444-a

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11

Academic Journal

Medical genetics: advances in brief: Medical genetics: advances in brief

المؤلفون: Barber, J. C K

المصدر: Journal of Medical Genetics ; volume 30, issue 8, page 707-707 ; ISSN 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.30.8.707-a
https://syndication.highwire.org/content/doi/10.1136/jmg.30.8.707-a

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12

Academic Journal

Medical genetics: advances in brief: Identification of a second pseudo-autosomal region near the Xq and Yq telomeres

المؤلفون: Barber, J. C K

المصدر: Journal of Medical Genetics ; volume 30, issue 4, page 349-349 ; ISSN 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.30.4.349-a
https://syndication.highwire.org/content/doi/10.1136/jmg.30.4.349-a

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13

Academic Journal

Medical genetics: advances in brief: Complete characterization of a large marker chromosome by reverse and forward chromosome painting

المؤلفون: Barber, J. C K

المصدر: Journal of Medical Genetics ; volume 30, issue 5, page 443-443 ; ISSN 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.30.5.443-a
https://syndication.highwire.org/content/doi/10.1136/jmg.30.5.443-a

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14

Academic Journal

Medical genetics: advances in brief: Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

المؤلفون: Barber, J. C K

المصدر: Journal of Medical Genetics ; volume 30, issue 1, page 85-85 ; ISSN 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.30.1.85-c
https://syndication.highwire.org/content/doi/10.1136/jmg.30.1.85-c

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15

Academic Journal

Medical genetics: advances in brief: Identification of the von Hippel-Lindau disease tumour suppressor gene

المؤلفون: Barber, J. C K

المصدر: Journal of Medical Genetics ; volume 30, issue 9, page 796-796 ; ISSN 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.30.9.796-a
https://syndication.highwire.org/content/doi/10.1136/jmg.30.9.796-a

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16

Academic Journal

Medical genetics: advances in brief: Amyotrophic lateral sclerosis and structural defects in Cu, Zn superoxide dismutase

المؤلفون: Barber, J. C K

المصدر: Journal of Medical Genetics ; volume 30, issue 11, page 972-972 ; ISSN 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.30.11.972-d
https://syndication.highwire.org/content/doi/10.1136/jmg.30.11.972-d

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17

Academic Journal

Comments on important genetic topics from papers in other journals: Prospects for homologous recombination in human gene therapy

المؤلفون: Barber, J C K

مصطلحات موضوعية: Medical Genetics: Advances in Brief

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/29/2/138-b; http://dx.doi.org/10.1136/jmg.29.2.138-b

الاتاحة: http://jmg.bmj.com/cgi/content/short/29/2/138-b
https://doi.org/10.1136/jmg.29.2.138-b

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18

Academic Journal

Comments on important genetic topics from papers in other journals: Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients

المؤلفون: Barber, J C K

المصدر: Journal of Medical Genetics ; volume 29, issue 1, page 70-70 ; ISSN 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.29.1.70-d
https://syndication.highwire.org/content/doi/10.1136/jmg.29.1.70-d

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19

Academic Journal

Medical genetics: advances in brief: Diagnosis of genetic disease using recombinant DNA. Third edition

المؤلفون: Barber, J. C K

المصدر: Journal of Medical Genetics ; volume 29, issue 3, page 214-214 ; ISSN 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.29.3.214

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20

Academic Journal

Comments on important genetic topics from papers in other journals: The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations

المؤلفون: Barber, J. C K

المصدر: Journal of Medical Genetics ; volume 29, issue 2, page 139-139 ; ISSN 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.29.2.139-c
https://syndication.highwire.org/content/doi/10.1136/jmg.29.2.139-c

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