-
1
المؤلفون: S. E. Holder, S. H. Wakelin, P. Nicholson, J. Carton
المصدر: Clinical and Experimental Dermatology. 44:818-821
مصطلحات موضوعية: Adult, Genetics, Polycystic Kidney Diseases, Pregnancy, RASA1 Gene, business.industry, Hydrops Fetalis, Port-Wine Stain, Infant, p120 GTPase Activating Protein, Dermatology, Delivery, Obstetric, medicine.disease, Skin Diseases, Infant Death, Capillaries, Pedigree, Arteriovenous Malformations, Mutation, Mutation (genetic algorithm), medicine, Humans, Female, business
-
2
المؤلفون: S, Polubothu, M, Glover, S E, Holder, V A, Kinsler
المصدر: The British Journal of Dermatology
مصطلحات موضوعية: Chromosomes, Human, Pair 15, DNA Mutational Analysis, Homozygote, Genes, Recessive, Uniparental Disomy, Research Letters, Sphingosine N-Acyltransferase, Correspondence, Research Letter, Humans, Female, Child, Prader-Willi Syndrome, Ichthyosis, Lamellar
-
3
المؤلفون: Lorraine Potocki, S. E. Holder, Lisa G. Shaffer, C. S. Waters, J. R. Lupski, R. W. Palmer, S-S Park, Pawel Stankiewicz, Sue Ann Berend
المصدر: Clinical Genetics. 60:336-344
مصطلحات موضوعية: Genetics, Pathology, medicine.medical_specialty, medicine.diagnostic_test, Marker chromosome, Aneuploidy, Biology, medicine.disease, Chromosome 17 (human), Chromosome 15, medicine, Trisomy, Chromosome 21, Small supernumerary marker chromosome, Genetics (clinical), Fluorescence in situ hybridization
-
4
المؤلفون: S E Holder, R M Winter
المصدر: Journal of Medical Genetics. 30:310-313
مصطلحات موضوعية: Male, X Chromosome, Genetic Linkage, Diagnostico diferencial, Facial Bones, Diagnosis, Differential, Fingers, Genetic linkage, Genetics, medicine, Humans, Abnormalities, Multiple, Ear, External, Genetics (clinical), X chromosome, Bone Diseases, Developmental, Palate, business.industry, Skull, Infant, Newborn, Infant, Syndrome, Toes, Prognosis, Phenotype, Infant newborn, medicine.anatomical_structure, Differential diagnosis, business, Research Article, Otopalatodigital syndrome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2ca53f75950a8d868a98f1de7f14278
https://doi.org/10.1136/jmg.30.4.310 -
5
المؤلفون: Tony Sirimanna, S E Holder, L Murdin, Benjamin Hartley
المصدر: The Journal of laryngology and otology. 120(3)
مصطلحات موضوعية: musculoskeletal diseases, Male, medicine.medical_specialty, Chondrodysplasia Punctata, Hearing loss, Genes, X-Linked, Peroxisomal disorder, Bronchoscopy, otorhinolaryngologic diseases, medicine, Humans, Chondrodysplasia punctata, Brachytelephalangic Chondrodysplasia Punctata, Nose, Laryngoscopy, business.industry, Infant, General Medicine, Anatomy, medicine.disease, Osteochondrodysplasia, Dermatology, medicine.anatomical_structure, Phenotype, Otorhinolaryngology, sense organs, medicine.symptom, Larynx, business, Epiphyseal stippling
-
6
المؤلفون: M, Spentchian, Y, Merrien, M, Herasse, Z, Dobbie, D, Gläser, S E, Holder, S-A, Ivarsson, D, Kostiner, S, Mansour, A, Norman, J, Roth, F, Stipoljev, J-L, Taillemite, J J, van der Smagt, J-L, Serre, B, Simon-Bouy, A, Taillandier, E, Mornet
المصدر: Human mutation. 22(1)
مصطلحات موضوعية: Male, Neonatal Screening, Pregnancy, Prenatal Diagnosis, Mutation, Infant, Newborn, Humans, Hypophosphatasia, Female, Alkaline Phosphatase
-
7
المؤلفون: A A, Karatza, S E, Holder, H M, Gardiner
المصدر: Ultrasound in obstetricsgynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 21(1)
مصطلحات موضوعية: Adult, Heart Defects, Congenital, Infant, Newborn, Arrhythmias, Cardiac, Pericardial Effusion, Ultrasonography, Prenatal, Fatal Outcome, Echocardiography, Pregnancy, Bradycardia, Humans, Female, Hypertrophy, Left Ventricular, Cardiomyopathies, Hernia, Umbilical
-
8
المؤلفون: P, Stankiewicz, S S, Parka, S E, Holder, C S, Waters, R W, Palmer, S A, Berend, L G, Shaffer, L, Potocki, J R, Lupski
المصدر: Clinical genetics. 60(5)
مصطلحات موضوعية: Chromosome Aberrations, Genetic Markers, Male, Phenotype, Charcot-Marie-Tooth Disease, Child, Preschool, Humans, Infant, Trisomy, Sequence Analysis, DNA, Chromosomes, Human, Pair 17
-
9
المؤلفون: D. Gläser, S. E. Holder, B. Simon-Bouy, Agnès Taillandier, Sahar Mansour, A. Norman, D. Kostiner, Etienne Mornet, F. Stipoljev, J.L. Serre, J-L. Taillemite, Y. Merrien, Zuzana Dobbie, S-A Ivarsson, Marc Spentchian, J.J. van der Smagt, J. Roth, M. Herasse
المصدر: Human Mutation. 22:105-106
مصطلحات موضوعية: medicine.medical_specialty, Kidney, Hypophosphatasia, ALPL, Gene mutation, Biology, medicine.disease, medicine.anatomical_structure, Endocrinology, Internal medicine, Liver tissue, Genetics, medicine, Medical genetics, Alkaline phosphatase, Gene, Genetics (clinical)
-
10
المؤلفون: L M Grimsley, L J Butler, R W Palmer, S E Holder, M Baraitser
مصطلحات موضوعية: Male, medicine.medical_specialty, Cornelia de Lange Syndrome, Trisomy, Biology, Nuclear Family, Gene mapping, De Lange Syndrome, Genetics, medicine, Humans, Genetics (clinical), Partial Trisomy, Cytogenetics, Infant, Karyotype, medicine.disease, Phenotype, Child, Preschool, Karyotyping, Female, Chromosome painting, Chromosomes, Human, Pair 3, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e241fdbd5690d5342165def685763f3
https://europepmc.org/articles/PMC1049680/