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1. Full Text MAN1B-CDG: Novel variants with a distinct phenotype and review of literature
by Balasubramanian, Meena and Johnson, Diana S and DDD Study
European journal of medical genetics, ISSN 1769-7212, 02/2019, Volume 62, Issue 2, pp. 109 - 114
Obesity | Transferrins | Glycosylation | Intellectual disability | Syndromal | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Index Medicus
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2. Full Text De novo SETD5 loss‐of‐function variant as a cause for intellectual disability in a 10‐year old boy with an aberrant blind ending bronchus
by Green, Claire and Willoughby, Joshua and Balasubramanian, Meena and DDD Study
American journal of medical genetics. Part A, ISSN 1552-4825, 12/2017, Volume 173, Issue 12, pp. 3165 - 3171
3p25, SETD5 | aberrant blind ending bronchus | 3p microdeletion | loss of function | intellectual disability | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Frameshift Mutation | Loss of Function Mutation | Humans | Methyltransferases - genetics | Exons - genetics | Male | Developmental Disabilities - genetics | Intellectual Disability - genetics | Phenotype | Bronchi - abnormalities | Intellectual Disability - diagnosis | Heterozygote | Child | Developmental Disabilities - diagnosis | Chromosomes, Human, Pair 3 - genetics | Cohort Studies | Bronchus | DNA microarrays | Mutation | Growth rate | Intellectual disabilities | Heart diseases | Index Medicus
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3. Full Text Clinical and molecular heterogeneity of osteogenesis imperfecta
by Balasubramanian, Meena
2017, Colloquium series on genomic and molecular medicine, ISBN 1615047441, 78
Life Sciences | Genetics | SCIENCE | Molecular Biology | Genetics & Genomics | MEDICAL | Osteogenesis imperfecta
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4. Full Text Expanding the molecular basis and phenotypic spectrum of ZDHHC9‐associated X‐linked intellectual disability
by Schirwani, Schaida and Wakeling, Emma and Smith, Kath and Balasubramanian, Meena and DDD Study
American journal of medical genetics. Part A, ISSN 1552-4825, 05/2018, Volume 176, Issue 5, pp. 1238 - 1244
developmental delay | macrocephaly | seizure | array CGH | ZDHHC9 | X‐linked intellectual disability | X-linked intellectual disability | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Genetic Association Studies - methods | Genotype | Infant | Male | Acyltransferases - genetics | Mental Retardation, X-Linked - genetics | Phenotype | Comparative Genomic Hybridization | Pedigree | Mental Retardation, X-Linked - diagnosis | Adolescent | Alleles | Facies | Female | High-Throughput Nucleotide Sequencing | Mutation | Child | Cytogenetics | Family | Seizures (Medicine) | Gene mutations | Phenotypes | Zinc finger proteins | Gene deletion | Intellectual disabilities | Seizures | Index Medicus
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5. UTILIZATION OF E-RESOURCES BY THE DISTANCE LEARNERS OF MADURAI KAMARAJ UNIVERSITY, MADURAI, TAMILNADU: A STUDY
by S Meena and P Balasubramanian
Library philosophy and practice, 01/2019, pp. 1 - 9
Library collections | Distance learning | Library management | Internet resources | Academic libraries | Information sources | Special libraries | Electronic periodicals | User services | Publishing | Information communication | Questionnaires | Library resources | Infrastructure | Usability
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6. Full Text Exploring the association between SRPX2 variants and neurodevelopment: How causal is it?
by Schirwani, Schaida and McConnell, Vivienne and Willoughby, Josh and Balasubramanian, Meena and DDD Study
Gene, ISSN 0378-1119, 02/2019, Volume 685, pp. 50 - 54
Rolandic epilepsy | Speech and language impairment | SRPX2 | Neurodevelopmental delay | FOXP2 | Seizures | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Speech Disorders - metabolism | Genetic Predisposition to Disease | Genetic Testing | Genetic Association Studies | Humans | Speech Disorders - genetics | Genotype | Infant | Male | Nerve Tissue Proteins - genetics | Speech Disorders - physiopathology | Exome | Genetic Variation | Nerve Tissue Proteins - metabolism | Neurogenesis - genetics | Alleles | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Genetic disorders | Seizures (Medicine) | Language acquisition | Epilepsy | Analysis | Index Medicus
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7. Full Text Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
by Akawi, Nadia and McRae, Jeremy and Ansari, Morad and Balasubramanian, Meena and Blyth, Moira and Brady, Angela F and Clayton, Stephen and Cole, Trevor and Deshpande, Charu and Fitzgerald, Tomas W and Foulds, Nicola and Francis, Richard and Gabriel, George and Gerety, Sebastian S and Goodship, Judith and Hobson, Emma and Jones, Wendy D and Joss, Shelagh and King, Daniel and Klena, Nikolai and Kumar, Ajith and Lees, Melissa and Lelliott, Chris and Lord, Jenny and McMullan, Dominic and O'Regan, Mary and Osio, Deborah and Piombo, Virginia and Prigmore, Elena and Rajan, Diana and Rosser, Elisabeth and Sifrim, Alejandro and Smith, Audrey and Swaminathan, Ganesh J and Turnpenny, Peter and Whitworth, James and Wright, Caroline F and Firth, Helen V and Barrett, Jeffrey C and Lo, Cecilia W and FitzPatrick, David R and Hurles, Matthew E and DDD Study and DDD study and the DDD study
Nature genetics, ISSN 1061-4036, 11/2015, Volume 47, Issue 11, pp. 1363 - 1369
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease - genetics | Humans | Genetic Association Studies - methods | Family Health | Genotype | Male | United Kingdom | Developmental Disabilities - genetics | Developmental Disabilities - classification | Genes, Recessive | Genetic Variation | Exome - genetics | Phenotype | Pedigree | Matrix Metalloproteinases, Secreted - genetics | Cell Cycle Proteins - genetics | Female | Protein-Arginine N-Methyltransferases - genetics | Ubiquitin-Protein Ligases - genetics | Sequence Analysis, DNA - methods | Disease susceptibility | Genetic aspects | Identification and classification | Familial diseases | Risk factors | Datasets | Mutation | Genes | Methods | Index Medicus
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8. Full Text A novel de novo 20q13.32-q13.33 deletion in a 2-year-old child with poor growth, feeding difficulties and low bone mass
by Balasubramanian, Meena and Atack, Edward and Smith, Kath and Parker, Michael James
Journal of human genetics, ISSN 1434-5161, 06/2015, Volume 60, Issue 6, pp. 313 - 317
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Genetic Association Studies | Humans | Growth Disorders - diagnosis | Child, Preschool | Male | Bone Diseases, Developmental - genetics | Comparative Genomic Hybridization | Feeding and Eating Disorders of Childhood - diagnosis | Feeding and Eating Disorders of Childhood - genetics | Growth Disorders - genetics | Bone Diseases, Developmental - diagnosis | Chromosomes, Human, Pair 20 - genetics | Phenotypes | Adipose tissue | Bone mass | Osteodystrophy | Chromosome 20 | Chromosome deletion | Hybridization | Gene deletion | Index Medicus
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9. Full Text Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum
by Keppler‐Noreuil, Kim M and Sapp, Julie C and Lindhurst, Marjorie J and Parker, Victoria E.R and Blumhorst, Cathy and Darling, Thomas and Tosi, Laura L and Huson, Susan M and Whitehouse, Richard W and Jakkula, Eveliina and Grant, Ian and Balasubramanian, Meena and Chandler, Kate E and Fraser, Jamie L and Gucev, Zoran and Crow, Yanick J and Brennan, Leslie Manace and Clark, Robin and Sellars, Elizabeth A and Pena, Loren DM and Krishnamurty, Vidya and Shuen, Andrew and Braverman, Nancy and Cunningham, Michael L and Sutton, V. Reid and Tasic, Velibor and Graham, John M and Geer, Joseph and Henderson, Alex and Semple, Robert K and Biesecker, Leslie G
American journal of medical genetics. Part A, ISSN 1552-4825, 07/2014, Volume 164, Issue 7, pp. 1713 - 1733
macrodactyly | fibroadipose overgrowth | somatic mosaicism | CLOVES syndrome | segmental overgrowth | PIK3CA gene | Segmental overgrowth | Macrodactyly | Somatic mosaicism | Fibroadipose overgrowth | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Middle Aged | Lipoma - genetics | Child, Preschool | Infant | Male | Young Adult | Organ Specificity - genetics | Nevus - genetics | Hyperplasia - genetics | Adult | Female | Musculoskeletal Abnormalities - diagnosis | Hyperplasia - diagnosis | Child | Infant, Newborn | Nevus - diagnosis | Genetic Association Studies | Adipose Tissue - pathology | Genotype | Phosphatidylinositol 3-Kinases - genetics | Phenotype | Class I Phosphatidylinositol 3-Kinases | Musculoskeletal Abnormalities - genetics | Adolescent | Age of Onset | Vascular Malformations - diagnosis | Mutation | Vascular Malformations - genetics | Lipoma - diagnosis | Skin diseases | Genetic disorders | Index Medicus
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10. Full Text Dielectric and magnetic properties of Allium cepa and Raphanus sativus extracts biogenic ZnO nanoparticles
by Saravanan, P and SenthilKannan, K and Mustafa, A and Vimalan, M and Bououdina, M and Balasubramanian, S and Meena, M and Tamilselvan, S
Journal of materials science. Materials in electronics, ISSN 0957-4522, 11/2020, Volume 32, Issue 1, pp. 590 - 603
Engineering | Physical Sciences | Materials Science | Technology | Materials Science, Multidisciplinary | Engineering, Electrical & Electronic | Physics, Condensed Matter | Physics | Science & Technology | Physics, Applied | Nanoparticles | Zinc oxide | Ferromagnetism | Engineering schools | Analysis | Magnetic properties | Dielectric loss | Wurtzite | X ray powder diffraction | Space charge | Charge transport | Magnetic transitions | Magnetic measurement | Zinc oxides | Chemical composition | Diamagnetism
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11. Full Text Osteogenesis imperfecta type I: The role of deep phenotyping in a patient with a ruptured uterus
by Redman, Melody Grace and Wagner, Bart E and Balasubramanian, Meena
European journal of medical genetics, ISSN 1769-7212, 12/2020, Volume 63, Issue 12, pp. 104095 - 104095
Type 1 collagen | Phenotype | Uterine rupture | Osteogenesis Imperfecta | COL1A1/COL1A2 Collagen flowers | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Women | Osteogenesis imperfecta | Skin | Health aspects | Collagen | Histochemistry | Index Medicus
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12. Full Text Biosorption of multi-heavy metals by coral associated phosphate solubilising bacteria Cronobacter muytjensii KSCAS2
by Saranya, Kailasam and Sundaramanickam, Arumugam and Shekhar, Sudhanshu and Meena, Moorthy and Sathishkumar, Rengasamy Subramaniyan and Balasubramanian, Thangavel
Journal of environmental management, ISSN 0301-4797, 09/2018, Volume 222, pp. 396 - 401
Biosorption | Heavy metals | PSB | Cronobacter muytjensii | Environmental Sciences & Ecology | Life Sciences & Biomedicine | Science & Technology | Environmental Sciences | Phosphates | Marine biology | Bacteria | Coral reefs and islands | Analysis | Index Medicus
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13. Full Text Clinical report follow up: Type 1 Collagenopathy presenting with a Russell–Silver phenotype
by Kanani, Farah and Parker, Michael J and Burren, Christine P and Rankin, Julia and Balasubramanian, Meena
American journal of medical genetics. Part A, ISSN 1552-4825, 01/2019, Volume 179, Issue 1, pp. 139 - 140
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Phenotypes | Collagen | Index Medicus
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14. Full Text SHANK3 variant as a cause of nonsyndromal autism in an 11-year-old boy and a review of published literature
by Kanani, Farah and Study, Ddd and Balasubramanian, Meena and DDD Study
Clinical dysmorphology, ISSN 0962-8827, 10/2018, Volume 27, Issue 4, pp. 113 - 115
genomics | SHANK3 | autism | social communication | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic aspects | Research | Diagnosis | Genetic variation | Pervasive developmental disorders | Index Medicus
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