نتائج البحث - "Sara Mackay"

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دورية أكاديمية

Comparing library wayfinding among novices and experts

المصدر: Performance Measurement and Metrics, 2016, Vol. 17, Issue 1, pp. 70-82.

الوصول الحر: http://www.emeraldinsight.com/doi/10.1108/PMM-12-2015-0041Test

View full text at Emerald

النص الكامل

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المساهمون: University of Zurich, Micale, Lucia

المصدر: Clinical Genetics. 97:396-406

مصطلحات موضوعية: Male, 0301 basic medicine, Connective Tissue Disorder, COL1A1, COL1A2, osteogenesis imperfecta, 030105 genetics & heredity, joint hypermobility, Child, Connective Tissue Diseases, Ehlers-Danlos syndrome, skin and connective tissue diseases, Genetics (clinical), Genetics, integumentary system, Procollagen N-Endopeptidase, Middle Aged, Connective tissue disease, Phenotype, Connective Tissue, Osteogenesis imperfecta, Child, Preschool, Female, medicine.symptom, Adult, musculoskeletal diseases, Joint hypermobility, Heterozygote, 2716 Genetics (clinical), congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, 610 Medicine & health, macromolecular substances, Biology, Short stature, Collagen Type I, Young Adult, 03 medical and health sciences, 1311 Genetics, medicine, Humans, Demography, Genetic Variation, Infant, medicine.disease, Collagen Type I, alpha 1 Chain, Procollagen peptidase, 030104 developmental biology, 10036 Medical Clinic, Ehlers–Danlos syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5a7d623f49339c311450887a1e477b6Test
https://doi.org/10.1111/cge.13683Test

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Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

المؤلفون: Angelika Rieß, Shabab B. Hannan, Hessa S. Alsaif, Tadahiro Mitani, Ghassan Balousha, Siddharth Banka, Kendall C. Parks, Reza Azizi Malamiri, Henry Houlden, James R. Lupski, Elliott H. Sherr, Emanuela Argilli, Joseph J. Gleeson, Osama Balousha, Jakob Admard, Thomas Nägele, Adam Jackson, Zaid Ghanim, Alistair T. Pagnamenta, Ana Velic, Sarah Dyack, Reza Maroofian, Holger Hengel, Hamad Al-Zaidan, Stefanie Schuster, Amber Begtrup, Neda Mazaheri, Helen Kingston, Stephan Ossowski, Davut Pehlivan, Ludger Schöls, Mohammad Yahya Vahidi Mehrjardi, Stefan Hauser, Tobias B. Haack, Sara MacKay, Gholamreza Shariati, Hamid Galehdari, Mathew Osmond, Nicolas Casadei, Martin Fleger, Sevcan Tug Bozdogan, Andreas Kurringer, Ulrich A. Schatz, Boris Macek, Fowzan S. Alkuraya, Mohammadreza Dehghani

المصدر: American journal of human genetics, vol 108, iss 6
The American journal of human genetics 108(6), 1069-1082 (2021). doi:10.1016/j.ajhg.2021.04.024
American Journal of Human Genetics
Care4Rare Canada Consortium 2021, ' Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1069-1082 . https://doi.org/10.1016/j.ajhg.2021.04.024Test

مصطلحات موضوعية: Proband, Male, Microcephaly, metabolism [Neurodevelopmental Disorders], Care4Rare Canada Consortium, Proteome, Loss of Heterozygosity, Medical and Health Sciences, Germline, Mice, transcriptomics, Neurodevelopmental disorder, Neoplasm Proteins/genetics, Cell Movement, Loss of Function Mutation, thin corpus callosum, BCAS3, 2.1 Biological and endogenous factors, Global developmental delay, microcephaly, Aetiology, Child, analysis [Proteome], Genetics (clinical), Fibroblasts/metabolism, Genetics, Mice, Knockout, Pediatric, Genetics & Heredity, 0303 health sciences, 030305 genetics & heredity, BCAS3 protein, human, Biological Sciences, ddc, Neoplasm Proteins, Pedigree, Child, Preschool, metabolism [Neoplasm Proteins], Knockout mouse, Drosophila, Female, UAS-Gal4, medicine.symptom, pathology [Fibroblasts], metabolism [Fibroblasts], Adult, Adolescent, pyramidal tract involvement, Knockout, global developmental delay, Biology, Short stature, Article, 03 medical and health sciences, Young Adult, proteomics, ddc:570, etiology [Neurodevelopmental Disorders], fibroblasts, Proteome/analysis, medicine, pathology [Neurodevelopmental Disorders], Neurodevelopmental Disorders/etiology, Animals, Humans, Allele, Preschool, 030304 developmental biology, genetics [Neoplasm Proteins], Human Genome, Infant, medicine.disease, neurodevelopmental disorder, Brain Disorders, Genomics England Research Consortium, Neurodevelopmental Disorders, Congenital Structural Anomalies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02b3a8a3a40ba3c0e4b68246c46199e4Test
https://escholarship.org/uc/item/7rn0f207Test

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Author response for 'COL1 ‐related overlap disorder: a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap'

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Connective Tissue Disorder, Ehlers–Danlos syndrome, business.industry, Osteogenesis imperfecta, medicine, medicine.disease, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2e93d2e0d3af16004d8caadb706e1f0Test
https://doi.org/10.1111/cge.13683/v3/response1Test

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Genotype and phenotype spectrum of NRAS germline variants

المساهمون: Clinical Genetics

المصدر: European Journal of Human Genetics, 25(7), 823-831. Nature Publishing Group
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
European Journal of Human Genetics, 25, 823-831
European Journal of Human Genetics, 25, 7, pp. 823-831

مصطلحات موضوعية: 0301 basic medicine, Neuroblastoma RAS viral oncogene homolog, Adult, Heart Defects, Congenital, Male, Adolescent, Genotype, Mutation, Missense, 030105 genetics & heredity, RASopathy, Biology, medicine.disease_cause, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Article, GTP Phosphohydrolases, 03 medical and health sciences, Germline mutation, Costello syndrome, Ectodermal Dysplasia, Genetics, medicine, Ras subfamily, Humans, HRAS, Child, Genetics (clinical), Germ-Line Mutation, Costello Syndrome, Noonan Syndrome, Infant, Newborn, Facies, Infant, Membrane Proteins, medicine.disease, Failure to Thrive, 030104 developmental biology, Phenotype, Child, Preschool, Noonan syndrome, Female, KRAS