نتائج البحث - "616.042"

1

Dissertation/ Thesis

A nonparametric regression approach to the analysis of genomewide association studies

المؤلفون: Kirdwichai, Pianpool

مصطلحات موضوعية: 616.042

URL الوصول: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.625495

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2

Dissertation/ Thesis

Recognition and delineation of new phenotypes in human genetic disorders

المؤلفون: Morrison, P. J.

مصطلحات موضوعية: 616.042

URL الوصول: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.580100

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3

Dissertation/ Thesis

Functional characterisation of genetic variants associated with malignant hyperthermia

المؤلفون: Merritt, Alan

المساهمون: Hopkins, Philip, Booms, Patrick, Steele, Derek

مصطلحات موضوعية: 616.042

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.589293

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4

Dissertation/ Thesis

Molecular pathologies and neuronal developmental changes in a mouse model of human ciliopathies

المؤلفون: Abdelhamed, Zakia Ibrahim Awad

مصطلحات موضوعية: 616.042

URL الوصول: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.595678

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5

Dissertation/ Thesis

Predicting the functional effects of genetic variation

المؤلفون: Shihab, Hashem Ali

مصطلحات موضوعية: 616.042

URL الوصول: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.633144

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6

Dissertation/ Thesis

Identification and characterisation of novel mitochondrial and nuclear mutations associated with mitochondrial translation defects

المؤلفون: Yarham, John William

مصطلحات موضوعية: 616.042

URL الوصول: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.613448

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7

Dissertation/ Thesis

Impact of the nuclear proteome on mitochondrial disorders

المؤلفون: Neeve, Vivieene C. M.

مصطلحات موضوعية: 616.042

URL الوصول: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.613431

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8

Dissertation/ Thesis

Molecular genetic investigation of a novel skeletal patterning disorder, x-linked absent radius spectrum (XLARS)

المؤلفون: Campbell, Jennifer

مصطلحات موضوعية: 616.042

URL الوصول: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.612621

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9

Dissertation/ Thesis

Investigations into kinase associated genotoxicity

المؤلفون: Manville, Catriona Margaret

مصطلحات موضوعية: 616.042

URL الوصول: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.608360

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10

Dissertation/ Thesis

Investigation of VPS33B deficiency in mouse and man

المؤلفون: Smith, Holly

مصطلحات موضوعية: 616.042, QH426 Genetics, RC Internal medicine

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.567729

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11

Dissertation/ Thesis

Pharmacogenetics in patient care

المؤلفون: Almemani, Basima Abdalla Husein

مصطلحات موضوعية: 616.042

URL الوصول: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.546000

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12

Dissertation/ Thesis

Investigating the link between defective DNA end-processing and human neurological disease

المؤلفون: Reynolds, John Joseph

مصطلحات موضوعية: 616.042, QH0426 Genetics, RC0346 Neurology. Diseases of the nervous system Including speech disorders

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.554644

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13

Dissertation/ Thesis

Investigating lamin A mutations in progeroid syndromes and partial lipodystrophy

المؤلفون: Smallwood, Dawn Teresca

المساهمون: Shackleton, Sue

مصطلحات موضوعية: 616.042, Lamin A, Progeria, Lipodystrophy

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.558010

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14

Dissertation/ Thesis

Characterisation of anatomical and functional deficits in a mouse model of Rett Syndrome

المؤلفون: Weng, Shih-Ming

مصطلحات موضوعية: 616.042, QH426 Genetics

URL الوصول: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.547204

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15

Dissertation/ Thesis

Phenotypic analysis of the Plp1 gene overexpressing mouse model #72 : implications for demyelination and remyelination failure

المؤلفون: Gruenenfelder, Fredrik Ingemar

مصطلحات موضوعية: 616.042, RB Pathology, RZ Other systems of medicine, RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry

URL الوصول: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.546665

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16

Dissertation/ Thesis

Comparative approaches to the genetics of human neuropsychiatric disorders

المؤلفون: Noh, Hyun Ji

المساهمون: Ponting, Chris P., Webber, Caleb

مصطلحات موضوعية: 616.042, Autism, Anxiety disorders, Bioinformatics (life sciences), Genetics (life sciences), comparative genomics, disease genomics, computational biology, copy number variants, high-throughput sequencing

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.580921

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17

Dissertation/ Thesis

Metabolomic analyses of Drosophila models for human renal disease

المؤلفون: Hobani, Yahya Hasan

مصطلحات موضوعية: 616.042, QH426 Genetics

URL الوصول: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.547886

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18

Dissertation/ Thesis

Genetics and kinship : finding morality at their intersection

المؤلفون: Cowley, Lorraine Liddell

مصطلحات موضوعية: 616.042

URL الوصول: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.577489

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19

Dissertation/ Thesis

Approaches to the analysis of genetic variation in Mendelian disease genes in a population context : cardiovascular and respiratory applications

المؤلفون: Boustred, Christopher Robert

مصطلحات موضوعية: 616.042

URL الوصول: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.627938

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20

Dissertation/ Thesis

Cytogenomics of human oocytes and embryos : application of microarrays for the detection of the incidence and orgin of chromosome copy number errors

المؤلفون: Gabriel, Alem Selassie

مصطلحات موضوعية: 616.042

URL الوصول: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.544086

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