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1. Full Text Congenital hearing loss
by Korver, Anna M.H and Smith, Richard J.H and Van Camp, Guy and Schleiss, Mark R and Bitner-Glindzicz, Maria A.K and Lustig, Lawrence R and Usami, Shin-Ichi and Boudewyns, An N
Nature reviews. Disease primers, ISSN 2056-676X, 01/2017, Volume 3, Issue 1, pp. 16094 - 16094
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Animals | Hearing Loss - congenital | Hearing Loss - physiopathology | Hearing Loss - epidemiology | Humans | Risk Factors | Infant, Newborn | Hearing Loss - virology | Index Medicus
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2. Full Text DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System
by Sommen, Manou and Schrauwen, Isabelle and Vandeweyer, Geert and Boeckx, Nele and Corneveaux, Jason J and Ende, Jenneke and Boudewyns, An and Leenheer, Els and Janssens, Sandra and Claes, Kathleen and Verstreken, Margriet and Strenzke, Nicola and Predöhl, Friederike and Wuyts, Wim and Mortier, Geert and Bitner‐Glindzicz, Maria and Moser, Tobias and Coucke, Paul and Huentelman, Matthew J and Camp, Guy
Human mutation, ISSN 1059-7794, 08/2016, Volume 37, Issue 8, pp. 812 - 819
targeted resequencing | hereditary hearing loss | mutation classification system | Targeted resequencing | Mutation classification system | Hereditary hearing loss | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Membrane Proteins - genetics | Humans | Connexins - genetics | Hearing Loss, Sensorineural - genetics | Myosins - genetics | INDEL Mutation | DNA Copy Number Variations | Exome | Hearing Loss, Sensorineural - diagnosis | Polymorphism, Single Nucleotide | Mutation | High-Throughput Nucleotide Sequencing - methods | Sequence Analysis, DNA - methods | GPI-Linked Proteins - genetics | Corporate sponsorship | Gene mutations | Analysis | DNA | Genetic aspects | Nucleotide sequencing | Hearing loss | DNA sequencing | Genetic disorders | Hearing impairment | Deoxyribonucleic acid--DNA | Index Medicus
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3. Full Text The 100 000 Genomes Project: What it means for paediatrics
by Griffin, Blanche H and Chitty, Lyn S and Bitner-Glindzicz, Maria
Archives of disease in childhood. Education and practice edition, ISSN 1743-0585, 04/2017, Volume 102, Issue 2, pp. 105 - 107
diagnosis | Genetics | rare disease | Syndrome | Life Sciences & Biomedicine | Pediatrics | Science & Technology | Rare Diseases - genetics | Humans | Child, Preschool | Infant | Male | United Kingdom | Chromosome Mapping | Neoplasms - genetics | Adolescent | Female | Genome | Child | Infant, Newborn | Medicine | Parents & parenting | Genomics | Families & family life | Genomes | Clinical medicine | Cancer therapies | Patients | Children & youth | Index Medicus
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4. Full Text Hereditary deafness and phenotyping in humans
by Bitner-Glindzicz, Maria
British medical bulletin, ISSN 0007-1420, 2002, Volume 63, Issue 1, pp. 73 - 94
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Deafness - genetics | Prevalence | Humans | Middle Aged | Genetic Diseases, Inborn - genetics | Child, Preschool | Aminoglycosides | Infant | Male | Genetic Diseases, Inborn - epidemiology | Genes, Dominant | Adult | Female | Anti-Bacterial Agents - adverse effects | Child | Deafness - epidemiology | Connexins - genetics | Genotype | Genes, Recessive | Connexin 26 | Phenotype | Adolescent | Age of Onset | X Chromosome | Mutation | Mitochondria - physiology | Index Medicus
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5. Full Text Republished: Genetic investigations in childhood deafness
by Parker, Michael and Bitner-Glindzicz, Maria
Postgraduate medical journal, ISSN 0032-5473, 07/2015, Volume 91, Issue 1077, pp. 395 - 402
Causes of | Genetic aspects | Hearing disorders in children | Diagnosis | Cochlear implants | Families & family life | Genomes | Mutation | Hearing protection | Medical screening | Hearing impairment | Children & youth
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6. Full Text A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR‐based approach and next generation sequencing
by Schrauwen, Isabelle and Sommen, Manou and Corneveaux, Jason J and Reiman, Rebecca A and Hackett, Nicole J and Claes, Charlotte and Claes, Kathleen and Bitner‐Glindzicz, Maria and Coucke, Paul and Van Camp, Guy and Huentelman, Matthew J
American journal of medical genetics. Part A, ISSN 1552-4825, 01/2013, Volume 161, Issue 1, pp. 145 - 152
microdroplet PCR | diagnostics | hearing loss | deafness | Deafness | Diagnostics | Microdroplet PCR | Hearing loss | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Connexin 26 | Molecular Diagnostic Techniques - methods | Reproducibility of Results | Deafness - genetics | Humans | Sensitivity and Specificity | Connexins - genetics | Mutation | High-Throughput Nucleotide Sequencing - methods | Sequence Analysis, DNA - methods | Deafness - diagnosis | Polymerase Chain Reaction - methods | Molecular genetics | Genes | DNA | Medical genetics | Medical tests | Diagnosis | Index Medicus | Children
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7. Full Text Ototoxicity caused by aminoglycosides
by Bitner-Glindzicz, Maria and Rahman, Shamima
BMJ, ISSN 0959-8138, 10/2007, Volume 335, Issue 7624, pp. 784 - 785
Deafness | Antibiotics | Cost estimates | Medical genetics | Aminoglycosides | Penetrance | Mitochondrial DNA | Editorials | Genetic mutation | Human genetics | Hearing loss | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Gram-Negative Bacterial Infections - drug therapy | Anti-Bacterial Agents - adverse effects | Aminoglycosides - adverse effects | Humans | Hearing Loss - chemically induced | Index Medicus | Abridged Index Medicus
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8. Full Text Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children
by Mestek-Boukhibar, Lamia and Clement, Emma and Jones, Wendy D and Drury, Suzanne and Ocaka, Louise and Gagunashvili, Andrey and Le Quesne Stabej, Polona and Bacchelli, Chiara and Jani, Nital and Rahman, Shamima and Jenkins, Lucy and Hurst, Jane A and Bitner-Glindzicz, Maria and Peters, Mark and Beales, Philip L and Williams, Hywel J
Journal of medical genetics, ISSN 0022-2593, 11/2018, Volume 55, Issue 11, pp. 721 - 728
whole genome sequencing | genomics | rare disease | paediatric intensive care unit | rapid diagnosis | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Intensive care | Genetic disorders | Laboratories | Genomics | Laboratory equipment | Genomes | Management | Medical diagnosis | Risk factors | Genetic screening | Studies | Consortia | Genetic variance | Collaboration | Genetics | Accreditation | Children | Diagnosis | Bioinformatics | Index Medicus | 1304 | Diagnostics | 1506
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9. Full Text Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion
by Elpeleg, Orly and Miller, Chaya and Hershkovitz, Eli and Bitner-Glindzicz, Maria and Bondi-Rubinstein, Gili and Rahman, Shamima and Pagnamenta, Alistair and Eshhar, Sharon and Saada, Ann
American journal of human genetics, ISSN 0002-9297, 2005, Volume 76, Issue 6, pp. 1081 - 1086
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | General aspects. Genetic counseling | Biological and medical sciences | Medical sciences | Medical genetics | Exons | Humans | Mitochondrial Diseases - metabolism | Deoxyribonucleotides - genetics | DNA, Mitochondrial - genetics | Mitochondrial Encephalomyopathies - metabolism | Base Sequence | Gene Deletion | Succinate-CoA Ligases - deficiency | Microsatellite Repeats | Mitochondrial Diseases - genetics | DNA, Mitochondrial - metabolism | Introns | Mitochondrial Encephalomyopathies - genetics | Chromosome Mapping | Genetic Markers | Sequence Analysis, DNA | Mitochondrial Encephalomyopathies - pathology | Homozygote | Deoxyribonucleotides - metabolism | Pedigree | Alleles | Chromosomes, Human, Pair 13 | Mutation | Genome, Human | Mitochondrial DNA | Research | Encephalopathy | Transfer RNA | Genetics | Adenosine | Deoxyribonucleic acid--DNA | Index Medicus | Report
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