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  • 1-10 ل  34 نتائج ل ""cerebral""

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Publication : european journal of human genetics ejhg Publisher : london Publisher : nature publishing group
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Academic Journal

Rare copy number variation in cerebral palsy.

  • Authors : McMichael G; Robinson Institute, The University of Adelaide, Adelaide, South Australia, Australia.; Girirajan S

Subjects: Microarray Analysis*; Cerebral Palsy/Cerebral Palsy/Cerebral Palsy/*genetics ; DNA Copy Number Variations/DNA Copy Number Variations/DNA Copy Number Variations/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2014 Jan; Vol. 22 (1), pp. 40-5. Date of Electronic Publication: 2013 May 22.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

A gene for ataxic cerebral palsy maps to chromosome 9p12-q12.

  • Authors : McHale DP; Pharmacogenetics Unit, Central Research, Pfizer Ltd, Sandwich, Kent, UK. ; Jackson AP

Subjects: Ataxia/Ataxia/Ataxia/*pathology ; Cerebral Palsy/Cerebral Palsy/Cerebral Palsy/*genetics ; Chromosomes, Human, Pair 9/Chromosomes, Human, Pair 9/Chromosomes, Human, Pair 9/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2000 Apr; Vol. 8 (4), pp. 267-72.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium:

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Academic Journal

Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia.

  • Authors : Tentler D; Department of Genetics and Pathology, Uppsala University Hospital, Sweden.; Gustavsson P

Subjects: Cytoskeletal Proteins* ; GTPase-Activating Proteins* ; Gene Deletion*

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 1999 Jul; Vol. 7 (5), pp. 541-8.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium:

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Academic Journal

Cerebral visual impairment and intellectual disability caused by PGAP1 variants.

  • Authors : Bosch DG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Bartiméus, Institute for the Visually Impaired, Zeist, The Netherlands.

Subjects: Mutation*; Intellectual Disability/Intellectual Disability/Intellectual Disability/*genetics ; Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Dec; Vol. 23 (12), pp. 1689-93. Date of Electronic Publication: 2015 Mar 25.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.

  • Authors : Guerrini R; Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer - University of Florence, Florence, Italy. ; Mei D

Subjects: Mutation*; Cerebral Cortex/Cerebral Cortex/Cerebral Cortex/*metabolism ; Lissencephaly/Lissencephaly/Lissencephaly/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2012 Sep; Vol. 20 (9), pp. 995-8. Date of Electronic Publication: 2012 Feb 15.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management.

  • Authors : Haasdijk RA; Molecular Cardiology Laboratory, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands.; Cheng C

Subjects: Genetic Counseling*; Central Nervous System Vascular Malformations/Central Nervous System Vascular Malformations/Central Nervous System Vascular Malformations/*diagnosis ; Central Nervous System Vascular Malformations/Central Nervous System Vascular Malformations/Central Nervous System Vascular Malformations/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2012 Feb; Vol. 20 (2), pp. 134-40. Date of Electronic Publication: 2011 Aug 10.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations.

  • Authors : Cavé-Riant F; INSERM EMI 99-21, Faculté de Médecine Lariboisière, Paris, France.; Denier C

Subjects: Mutation*; Hemangioma, Cavernous, Central Nervous System/Hemangioma, Cavernous, Central Nervous System/Hemangioma, Cavernous, Central Nervous System/*genetics ; Microtubule-Associated Proteins/Microtubule-Associated Proteins/Microtubule-Associated Proteins/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2002 Nov; Vol. 10 (11), pp. 733-40.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium:

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Academic Journal

Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas families.

  • Authors : Laberge S; INSERM U25, Faculté de Médecine Necker, Paris, France.; Labauge P

Subjects: Founder Effect* ; Genetic Heterogeneity* ; Genetic Linkage*

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 1999 May-Jun; Vol. 7 (4), pp. 499-504.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium:

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Academic Journal

Accuracy of imputation to infer unobserved APOE epsilon alleles in genome-wide genotyping data.

Subjects: Alleles*; Apolipoproteins E/Apolipoproteins E/Apolipoproteins E/*genetics ; Genome-Wide Association Study/Genome-Wide Association Study/Genome-Wide Association Study/*methods

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2014 Oct; Vol. 22 (10), pp. 1239-42. Date of Electronic Publication: 2014 Jan 22.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

Low prevalence of APP duplications in Swedish and Finnish patients with early-onset Alzheimer's disease.

  • Authors : Blom ES; Section of Molecular Geriatrics, Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden. ; Viswanathan J

Subjects: Gene Duplication*; Alzheimer Disease/Alzheimer Disease/Alzheimer Disease/*genetics ; Amyloid beta-Protein Precursor/Amyloid beta-Protein Precursor/Amyloid beta-Protein Precursor/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2008 Feb; Vol. 16 (2), pp. 171-5. Date of Electronic Publication: 2007 Nov 28.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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  • 1-10 ل  34 نتائج ل ""cerebral""