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  • 1-10 ل  34 نتائج ل ""cerebral""

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Publication : european journal of human genetics ejhg Sort Order : Relevance
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Academic Journal

Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.

  • Authors : Tønne E; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.; Holdhus R

Subjects: Mutation, Missense*; Mental Retardation, X-Linked/Mental Retardation, X-Linked/Mental Retardation, X-Linked/*genetics ; Ubiquitin-Protein Ligases/Ubiquitin-Protein Ligases/Ubiquitin-Protein Ligases/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Dec; Vol. 23 (12), pp. 1652-6. Date of Electronic Publication: 2015 Mar 04.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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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 Medium: Internet ISSN:

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Academic Journal

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

  • Authors : El Khattabi L; 1] AP-HP, Groupe hospitalier Cochin-Broca-Hôtel Dieu, Laboratoire de Cytogénétique, Paris, France [2] INSERM, U1016 Institut Cochin, CNRS UMR8104, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.; Guimiot F

Subjects: Penetrance*; Basic Helix-Loop-Helix Transcription Factors/Basic Helix-Loop-Helix Transcription Factors/Basic Helix-Loop-Helix Transcription Factors/*genetics ; Obesity/Obesity/Obesity/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Aug; Vol. 23 (8), pp. 1010-8. Date of Electronic Publication: 2014 Nov 05.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model.

  • Authors : Tang M; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.; Siddiqi A

Subjects: Galactosemias/Galactosemias/Galactosemias/*genetics ; Infertility/Infertility/Infertility/*genetics ; UTP-Hexose-1-Phosphate Uridylyltransferase/UTP-Hexose-1-Phosphate Uridylyltransferase/UTP-Hexose-1-Phosphate Uridylyltransferase/*deficiency

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2014 Oct; Vol. 22 (10), pp. 1172-9. Date of Electronic Publication: 2014 Feb 19.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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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 Medium: Internet ISSN:

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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 Medium: Internet ISSN:

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Academic Journal

Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration.

  • Authors : Chiang HH; Department of NVS, Karolinska Institutet, KI-Alzheimer Disease Research Center, Stockholm, Sweden.; Forsell C

Subjects: Genetic Predisposition to Disease*; Frontotemporal Lobar Degeneration/Frontotemporal Lobar Degeneration/Frontotemporal Lobar Degeneration/*blood ; Frontotemporal Lobar Degeneration/Frontotemporal Lobar Degeneration/Frontotemporal Lobar Degeneration/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Nov; Vol. 21 (11), pp. 1260-5. Date of Electronic Publication: 2013 Mar 06.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome.

  • Authors : Le Pichon JB; Section of Neurology, Children's Mercy Hospitals and Clinics, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.; Yu S

Subjects: Genome, Human* ; Homozygote* ; Transcriptome*Chromosome 15q13.3 Microdeletion Syndrome

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Oct; Vol. 21 (10), pp. 1093-9. Date of Electronic Publication: 2013 Jan 30.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.

  • Authors : Poirier K; Institut Cochin, Université Paris-Descartes, CNRS, UMR 8104, Paris, France.; Saillour Y

Subjects: Malformations of Cortical Development/Malformations of Cortical Development/Malformations of Cortical Development/*genetics ; Malformations of Cortical Development, Group II/Malformations of Cortical Development, Group II/Malformations of Cortical Development, Group II/*genetics ; Tubulin/Tubulin/Tubulin/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Apr; Vol. 21 (4), pp. 381-5. Date of Electronic Publication: 2012 Sep 05.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.

  • Authors : Baas AF; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Gabbett M

Subjects: Agenesis of Corpus Callosum/Agenesis of Corpus Callosum/Agenesis of Corpus Callosum/*genetics ; DNA Repair-Deficiency Disorders/DNA Repair-Deficiency Disorders/DNA Repair-Deficiency Disorders/*genetics ; Glioblastoma/Glioblastoma/Glioblastoma/*complications

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Jan; Vol. 21 (1), pp. 55-61. Date of Electronic Publication: 2012 Jun 13.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 ل  34 نتائج ل ""cerebral""