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1
المؤلفون: D T Pilz, Claire L. S. Turner, H Firth, T M Yates, Jonathan Berg
المصدر: Clinical Genetics. 92:3-9
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, business.industry, Pachygyria, Genetic counseling, Lissencephaly, Trigonocephaly, 030105 genetics & heredity, medicine.disease, Short stature, Developmental disorder, 03 medical and health sciences, 030104 developmental biology, Genetics, medicine, Missense mutation, medicine.symptom, Hypertelorism, business, Genetics (clinical)
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2
المؤلفون: M, Balasubramanian, J, Willoughby, A E, Fry, A, Weber, H V, Firth, C, Deshpande, J N, Berg, K, Chandler, K A, Metcalfe, W, Lam, D T, Pilz, S, Tomkins
المصدر: Journal of medical genetics. 54(8)
مصطلحات موضوعية: Adult, Male, Young Adult, Phenotype, Loss of Function Mutation, Child, Preschool, Developmental Disabilities, Exome Sequencing, Humans, Female, Child, Transcription Factors
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3
المؤلفون: T M, Yates, C L, Turner, H V, Firth, J, Berg, D T, Pilz
المصدر: Clinical genetics. 92(1)
مصطلحات موضوعية: Craniofacial Abnormalities, Developmental Disabilities, Mental Retardation, X-Linked, Mutation, Missense, Facies, Humans, Abnormalities, Multiple, Genetic Counseling, Obesity, Actins, Growth Disorders, Hydrocephalus
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4
المؤلفون: B N Roberts, D T Pilz, Ruth F Walters
المصدر: Eye. 11:122-124
مصطلحات موضوعية: Ophthalmology, medicine.medical_specialty, Retinoblastoma, business.industry, medicine, medicine.disease, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::12439f4f5ea973fc50eec0a9833692ca
https://doi.org/10.1038/eye.1997.26 -
5Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16
المؤلفون: C. G. Woods, K. Rakshi, K. Springell, Neil Stoodley, Kate Chandler, D. K. Williams, D. T. Pilz, A. Del Rio
المصدر: Brain : a journal of neurology. 129(Pt 1)
مصطلحات موضوعية: Genetic Markers, Male, Pathology, medicine.medical_specialty, Microcephaly, Genotype, Genes, Recessive, Neonatal onset, Corpus callosum, Polymorphism, Single Nucleotide, Cerebral Ventricles, White matter, Epilepsy, Consanguinity, Neurodevelopmental disorder, Seizures, medicine, Humans, Abnormalities, Multiple, business.industry, Homozygote, Infant, Newborn, Brain, Facies, Syndrome, medicine.disease, Disease gene identification, Magnetic Resonance Imaging, Hypoplasia, Pedigree, medicine.anatomical_structure, Chromosomes, Human, Pair 2, Female, Neurology (clinical), business, Neuroscience
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a40dcf8e4484b1bb13031653849f6059
https://pubmed.ncbi.nlm.nih.gov/16272165 -
6
المصدر: Clinical dysmorphology. 13(2)
مصطلحات موضوعية: Male, Strabismus, Scalp, Adolescent, Entropion, Face, Hearing Loss, Sensorineural, Siblings, Humans, Alopecia, Syndrome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::9444483a7509483d43cbb68e9f5a5372
https://pubmed.ncbi.nlm.nih.gov/15057121 -
7
المؤلفون: Diana Eccles, S Barker, Catherine Kennedy, D T Pilz
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Past medical history, medicine.diagnostic_test, business.industry, Genetic counseling, Neurooncology, medicine.disease, Electronic Letter, Hypoplasia, Eastern european, Genetics, Medicine, Medical genetics, business, Predictive testing, Genetics (clinical), Genetic testing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aec91285d68d9aca2bfaa3706ee6763f
https://europepmc.org/articles/PMC1735401/ -
8
المؤلفون: D. T. Pilz, Mary D. King, Z. Docherty, Maurice Super, S. McManus, J. L. Huret, S.J. Fennell, E. Boyd, A. J. Barnicoat, E. Shafei-Benaissa, John Tolmie, J. L. Bonneau, E. L. Maltby
المصدر: Clinical genetics. 49(1)
مصطلحات موضوعية: Adult, Male, Down syndrome, Pediatrics, medicine.medical_specialty, Adolescent, Chromosomes, Human, Pair 21, International Cooperation, Aneuploidy, Biology, Clinical Protocols, Genotype, Gene duplication, Genetics, medicine, Humans, Child, Genetics (clinical), Karyotype, Middle Aged, medicine.disease, Phenotype, Child, Preschool, Karyotyping, Multigene Family, Cohort, Female, Down Syndrome, Trisomy, Chromosome 21, Gene Deletion, Follow-Up Studies
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9
المؤلفون: Oliver Quarrell, A. Dalton, E. L. Maltby, D. T. Pilz, A. Long, T. Jaspan
المصدر: Journal of medical genetics. 32(4)
مصطلحات موضوعية: Pcr assay, Ca repeat, Lissencephaly, Biology, Polymerase Chain Reaction, law.invention, law, Cell Movement, Genetics, medicine, Humans, Genetics (clinical), Polymerase chain reaction, In Situ Hybridization, Fluorescence, Repetitive Sequences, Nucleic Acid, Sequence Deletion, Cerebral Cortex, Neurons, Type II lissencephaly, Brain, Cortical dysplasia, Dinucleotide Repeat, medicine.disease, Molecular biology, England, In situ hybridisation, Gene Deletion, Polymorphism, Restriction Fragment Length, Chromosomes, Human, Pair 17, Research Article
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10
المؤلفون: L G, Biesecker, D T, Pilz, D, Pelz
المصدر: American Journal of Medical Genetics. 103:181-181
مصطلحات موضوعية: Chromosomes, Human, Pair 11, Terminology as Topic, Philosophy, Humans, Syndrome, Chromosome Deletion, Genetics (clinical), Epistemology