-
1
المؤلفون: M J Pocha, A F Brady, C S Waters, L A Brueton
المصدر: Clinical Genetics. 58:142-146
مصطلحات موضوعية: Partial Trisomy, Pediatrics, medicine.medical_specialty, Karyotype, Biology, Malignancy, medicine.disease, Trisomy 8, Myelomonocytic leukaemia, Leukemia, Immunology, Genetics, medicine, Genetics (clinical)
-
2
المؤلفون: L A, Brueton, R M, Winter
المصدر: Journal of Medical Genetics. 27:701-706
مصطلحات موضوعية: Diagnosis, Differential, Facial Expression, Radiography, Skull, Genetics, Humans, Abnormalities, Multiple, Hypertrophy, Facial Bones, Genetics (clinical), Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4563b19a5538dfb37b6f5b31d0f1f29
https://doi.org/10.1136/jmg.27.11.701 -
3
المؤلفون: A F, Brady, C S, Waters, M J, Pocha, L A, Brueton
المصدر: Clinical genetics. 58(2)
مصطلحات موضوعية: Adult, Male, Phenotype, Adolescent, Mosaicism, Child, Preschool, Karyotyping, Humans, Female, Leukemia, Myelomonocytic, Chronic, Trisomy, Chromosomes, Human, Pair 8
-
4
المؤلفون: L A, Brueton, S M, Huson, P M, Cox, I, Shirley, E M, Thompson, P R, Barnes, J, Price, J, Newsom-Davis, A, Vincent
المصدر: American journal of medical genetics. 92(1)
مصطلحات موضوعية: Adult, Arthrogryposis, Family Health, Male, Radioimmunoassay, Hypokinesia, Pedigree, Craniofacial Abnormalities, Pregnancy Complications, Phenotype, Pregnancy, Child, Preschool, Myasthenia Gravis, Humans, Abnormalities, Multiple, Female, Receptors, Cholinergic, Child, Fetal Death, Autoantibodies
-
5
المؤلفون: P M, Cox, L A, Brueton, K W, Murphy, V C, Worthington, P, Bjelogrlic, E J, Lazda, N J, Sabire, C A, Sewry
المصدر: American journal of medical genetics. 86(2)
مصطلحات موضوعية: Adult, Family Health, Hydrops Fetalis, Genetic Variation, Gestational Age, Glycogen Storage Disease Type IV, Fatal Outcome, Muscular Diseases, Pregnancy, 1,4-alpha-Glucan Branching Enzyme, Humans, Female, Age of Onset, Muscle, Skeletal
-
6
المؤلفون: P M, Cox, R A, Gibson, N, Morgan, L A, Brueton
المصدر: American journal of medical genetics. 68(1)
مصطلحات موضوعية: Fanconi Anemia, Fetus, Pregnancy, DNA Mutational Analysis, Fanconi Anemia Complementation Group C Protein, Twins, Dizygotic, Humans, Proteins, Abnormalities, Multiple, Female, Hydrocephalus, Pedigree
-
7
المؤلفون: G J, Feldman, N H, Robin, L A, Brueton, E, Robertson, E M, Thompson, J, Siegel-Bartelt, D L, Gasser, L C, Bailey, E H, Zackai, M, Muenke
المصدر: American journal of human genetics. 56(4)
مصطلحات موضوعية: Male, Genetic Linkage, Chromosome Mapping, Humans, Chromosomes, Human, Pair 6, Female, Lod Score, Cleidocranial Dysplasia, Pedigree, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::293ea195828157d8f45050e4bed1f880
https://pubmed.ncbi.nlm.nih.gov/7717404 -
8
المؤلفون: B M Ansell, Martin O. Savage, L Jadresic, L A Brueton, J I Harper, Ian R. Sanderson
المصدر: Journal of the Royal Society of Medicine. 82:223-225
مصطلحات موضوعية: Male, medicine.medical_specialty, Erythema, business.industry, MEDLINE, Infant, Syndrome, General Medicine, Dermatology, 030227 psychiatry, Surgery, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, 030212 general & internal medicine, Joint Diseases, medicine.symptom, business, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b9af9749def5e14ee48e48ba52b7f31
https://doi.org/10.1177/014107688908200414 -
9
المؤلفون: Martin O. Savage, Ian R. Sanderson, J I Harper, L A Brueton
المصدر: Europe PubMed Central
مصطلحات موضوعية: Male, Gynecology, medicine.medical_specialty, business.industry, General Engineering, Acyclovir, Infant, Herpes Simplex, General Medicine, medicine.disease, Virology, Dermatitis, Atopic, Herpesvirus hominis, medicine, Eczema herpeticum, Humans, General Earth and Planetary Sciences, Fatal disease, business, Research Article, General Environmental Science
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::412e4fda93bec12d276a30910d200df6
http://europepmc.org/abstract/med/3105692