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المؤلفون: Carla Marini, Samuel F. Berkovic, Daniela T. Pilz, William B. Dobyns, François Dubeau, L. Anne Mitchell, Anna Jansen, Jodie P. Malone, Richard J. Leventer, Eva Andermann, Ingrid E. Scheffer, Renzo Guerrini, Simone Mandelstam, Neil Stoodley, Frederick Andermann
المساهمون: Public Health Care
المصدر: Vrije Universiteit Brussel
مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Microcephaly, Pathology, Neurology, Developmental Disabilities, magnetic resonance, Cohort Studies, Epilepsy, Polymicrogyria, medicine, Prevalence, Humans, Global developmental delay, Age of Onset, Sex Distribution, medicine.diagnostic_test, business.industry, Infant, Newborn, Infant, Magnetic resonance imaging, Original Articles, medicine.disease, Perisylvian polymicrogyria, Magnetic Resonance Imaging, cortical malformations, Malformations of Cortical Development, epileptology, Muscle Spasticity, Child, Preschool, Female, Neurology (clinical), Age of onset, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b00cc6a9e67b4cff32294726cd5ffa97Test
https://europepmc.org/articles/PMC2859156Test/ -
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المؤلفون: Neil Stoodley, Daniela T. Pilz, Bruce E. Hayward, Peter Corry, Zoltán Molnár, C. Geoff Woods, Graham R. Taylor, Kelly Springell, Ewan E. Morrison, Tamara Sirey, Mushtaq Ahmed, David T. Bonthron, Louise Hattingh, Eamonn Sheridan, Yanick J. Crow, Ian M. Carr, Mohammad R. Abdollahi
المصدر: American journal of human genetics. 85(5)
مصطلحات موضوعية: Male, Molecular Sequence Data, Gene Expression, Lissencephaly, Genes, Recessive, medicine.disease_cause, Polymorphism, Single Nucleotide, Nuclear Family, Consanguinity, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Tubulin, Report, Optic Nerve Diseases, medicine, Polymicrogyria, Genetics, Humans, Protein Isoforms, Pakistan, Genetics(clinical), Child, Letters to the Editor, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Optic nerve hypoplasia, Mutation, Base Sequence, biology, Genetic Variation, Syndrome, Histone acetyltransferase, medicine.disease, Pedigree, Doublecortin, Cell biology, Malformations of Cortical Development, Radiography, medicine.anatomical_structure, Cerebral cortex, Child, Preschool, biology.protein, Female, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dc08ee028688ca881ad0fd8591245e9Test
http://ora.ox.ac.uk/objects/uuid:3543e865-7f5d-4a89-9013-2c8262f1fbcaTest -
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المؤلفون: Karen Helene Ørstavik, Zafar Nawaz, Vivienne K. Maloney, Nazneen Rahman, Daniela T. Pilz, Karen Marks, Christa Lese-Martin, Meriel McEntagart, Susan Tomkins, Katrina Tatton-Brown, P. W. Thompson, Shuwen Huang, Morag N. Collinson, John C. K. Barber, Eli Ormerod, Michael A. Patton, Paula Waits, John A. Crolla
المصدر: American journal of medical genetics. Part A. (2)
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Gene Dosage, Aneuploidy, Biology, Genetics, medicine, Body Size, Humans, Supernumerary, Abnormalities, Multiple, Renal agenesis, Genetics (clinical), Chromosomal inversion, Chromosome Aberrations, Family Health, Chromosomes, Human, Pair 15, Learning Disabilities, Horseshoe kidney, Syndrome, medicine.disease, Pedigree, Phenotype, Overgrowth syndrome, Face, Tetrasomy, Female, Kidney Diseases, Trisomy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eea6aa16f6363e147a981010975dd1eTest
https://pubmed.ncbi.nlm.nih.gov/19133692Test -
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المؤلفون: Renzo Guerrini, Davide Mei, Carla Marini, Elena Parrini, Daniela T. Pilz, Ruth Lewis, L. P. Lazarou
المصدر: Journal of medical genetics. 45(6)
مصطلحات موضوعية: DNA Mutational Analysis, Molecular Sequence Data, Alu element, Lissencephaly, Biology, medicine.disease_cause, Polymerase Chain Reaction, DNA sequencing, Gene Duplication, Gene duplication, Genetics, medicine, Humans, Multiplex ligation-dependent probe amplification, Child, Genetics (clinical), In Situ Hybridization, Fluorescence, Sequence Deletion, Mutation, Base Sequence, Genome, Human, Breakpoint, Brain, Infant, Chromosome Breakage, medicine.disease, Magnetic Resonance Imaging, Child, Preschool, 1-Alkyl-2-acetylglycerophosphocholine Esterase, Chromosome breakage, Microtubule-Associated Proteins, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61611cf2fd584a32cd57aea90248c0c5Test
https://pubmed.ncbi.nlm.nih.gov/18285425Test -
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المؤلفون: Zofia M.A. Chrzanowska-Lightowlers, Julian P.H. Shield, Robert W. Taylor, Joanna Poulton, Linda Jones, C White, Douglass M. Turnbull, Katherine J. Rennie, Mattias Elstner, Daniela T. Pilz, Emma L. Blakely
المصدر: Pediatric research. 59(3)
مصطلحات موضوعية: Adult, Mitochondrial DNA, Mutant, DNA Mutational Analysis, Exercise intolerance, Biology, medicine.disease_cause, DNA, Mitochondrial, Aortic Coarctation, Fatal Outcome, medicine, Humans, Point Mutation, Genetics, Mutation, Muscle biopsy, Electron Transport Complex I, medicine.diagnostic_test, Hypertrophy, Right Ventricular, Point mutation, Infant, Newborn, Infant, NADH Dehydrogenase, medicine.disease, Lactic acidosis, Pediatrics, Perinatology and Child Health, Acidosis, Lactic, Female, Hypertrophy, Left Ventricular, medicine.symptom, Severe lactic acidosis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff6c75b870e45f9374538793f8303f21Test
https://pubmed.ncbi.nlm.nih.gov/16492986Test -
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المؤلفون: Ying Yue, Bärbel Grossmann, Daniela T. Pilz, C. White, Thomas Haaf, K. Stout, Anja Brinckmann, Ulrich Zechner
مصطلحات موضوعية: Male, medicine.medical_specialty, Developmental Disabilities, Molecular Sequence Data, Short Report, Biology, Infections, Translocation, Genetic, Fusion gene, Exon, Mice, Molecular genetics, Genetics, medicine, Animals, Humans, Amino Acid Sequence, Child, Gene, Genetics (clinical), Genome, Human, Gene Expression Profiling, Breakpoint, Chromosome Mapping, Membrane Proteins, Chromosome Breakage, Exons, Null allele, Molecular biology, Gene expression profiling, Chromosomes, Human, Pair 1, Child, Preschool, Cytogenetic Analysis, Chromosomes, Human, Pair 6, Chromosome breakage
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1e1a7daa004d165baa7d6cfda673f92Test
https://europepmc.org/articles/PMC2564632Test/ -
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المؤلفون: Bill Dobyns, Daniela T. Pilz, Mark I. Rees, T. D. Cushion, Seo-Kyung Chung
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 85:e4.139-e4
مصطلحات موضوعية: TUBB3, Lissencephaly, Biology, medicine.disease, Phenotype, Psychiatry and Mental health, Epilepsy, medicine.anatomical_structure, Cerebral cortex, Congenital fibrosis of the extraocular muscles, Basal ganglia, medicine, Polymicrogyria, Surgery, Neurology (clinical), Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2c594b47bcd62fbc8e3f2faec23df34bTest
https://doi.org/10.1136/jnnp-2014-309236.3Test -
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المؤلفون: I K Temple, Katrina Tatton-Brown, J P Schouten, F L Raymond, Y Gillerot, S Guerrero, Daniela T. Pilz, Trevor Cole, Kim Coleman, Jenny Douglas, Jonathan S. Berg, Nazneen Rahman, Alexandre Irrthum, H. E. Hughes, David R. FitzPatrick
المصدر: Scopus-Elsevier
مصطلحات موضوعية: medicine.medical_specialty, Molecular Sequence Data, Biology, Electronic Letter, Exon, Molecular genetics, Genetics, medicine, Humans, Multiplex ligation-dependent probe amplification, Allele, Genetics (clinical), Growth Disorders, Base Sequence, Sotos syndrome, Genetic heterogeneity, Learning Disabilities, Breakpoint, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, Nucleic acid amplification technique, Histone-Lysine N-Methyltransferase, Syndrome, medicine.disease, Molecular biology, Case-Control Studies, Histone Methyltransferases, Nucleic Acid Amplification Techniques, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30c13cca0c592dd0b0b2ff06363e8b4eTest
https://pubmed.ncbi.nlm.nih.gov/16140999Test -
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المؤلفون: Paul Atkinson, Daniela T. Pilz, Angus John Clarke, Joanna Elizabeth Latimer, Katie Featherstone
المصدر: Sociology of healthillness. 27(5)
مصطلحات موضوعية: Warrant, Adult, Male, medicine.medical_specialty, Health (social science), Genetics, Medical, Interprofessional Relations, Medical classification, Human physical appearance, Congenital Abnormalities, Terminology as Topic, medicine, Photography, Humans, Personal knowledge base, Psychiatry, Child, Referral and Consultation, Anthropology, Cultural, Visual culture, Adjudication, Medical education, Health Policy, Public Health, Environmental and Occupational Health, Infant, Newborn, Health technology, Infant, United Kingdom, Phenotype, Education, Medical, Graduate, RC0321, Identification (biology), Female, Clinical Competence, Psychology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dad5b3314b47c9062f994e258d8a0520Test
https://pubmed.ncbi.nlm.nih.gov/16078901Test -
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المؤلفون: Anthony Wynshaw-Boris, Carlos Cardoso, Heather L. Ward, David H. Ledbetter, William B. Dobyns, Osvaldo M. Mutchinick, Daniela T. Pilz, Ann Haskins Olney, Shinji Hirotsune, Kazuhito Toyo-oka, June Chung, Richard J. Leventer, J E Allanson, Christa Lese Martin, Alyssa Gross
مصطلحات موضوعية: Male, Genotype, Transcription, Genetic, Molecular Sequence Data, Lissencephaly, Biology, medicine.disease_cause, Genetic determinism, Congenital Abnormalities, PAFAH1B1, hemic and lymphatic diseases, Genetics, medicine, Humans, Genetics(clinical), Abnormalities, Multiple, Gene, Genetics (clinical), DNA Primers, Retrospective Studies, Mutation, Miller–Dieker syndrome, medicine.diagnostic_test, Base Sequence, Infant, Articles, Syndrome, Telomere, medicine.disease, Phenotype, 1-Alkyl-2-acetylglycerophosphocholine Esterase, Female, Chromosome Deletion, Microtubule-Associated Proteins, Fluorescence in situ hybridization, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b55ea2fa06f5850ccbc054aa90512a22Test
https://europepmc.org/articles/PMC1180354Test/