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1دورية أكاديمية
المؤلفون: Jennifer E. Posey, Lindsay C. Burrage, Marcus J. Miller, Pengfei Liu, Matthew T. Hardison, Sarah H. Elsea, Qin Sun, Yaping Yang, Alecia S. Willis, Alan E. Schlesinger, Carlos A. Bacino, Brendan H. Lee
المصدر: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 176-183 (2014)
مصطلحات موضوعية: Lysinuric protein intolerance, Osteoporosis, Bone fractures, SLC7A7, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Davut Pehlivan, Jennifer E. Posey, David Tegay, Robert Haber, John Dronzek, William Poueymirou, Yavuz Bayram, Aris N. Economides, Kristen Howell, Alan E Schlesinger, Kalyan C. Nannuru, Ingrid S. Paine, Harikiran Nistala, Chia-Jen Siao, Yavuz Sahin, Richard A. Gibbs, V. Reid Sutton, Alberto Santiago Cornier, Melissa A. Kelly, Gozde Yesil, Johanna Jimenez, Marc S. Williams, James R. Lupski, Bo Yuan, Alper Gezdirici, Claudia Gonzaga-Jauregui, Silvia Smaldone, Nan Wu, Zeynep Coban Akdemir, Kristy Nieman, Simon Carlo, Saathyaki Rajamani, Johnathon R. Walls, Jeffrey Staples, Norman Ramirez, Shek Man Chim, Jawid M Fatih
المصدر: European Journal of Human Genetics
مصطلحات موضوعية: Male, Adolescent, Fibrillar Collagens, Population, Consanguinity, Biology, Short stature, Article, 03 medical and health sciences, Mice, Gene Frequency, Genetics, medicine, Missense mutation, Animals, Hip Dislocation, Humans, Abnormalities, Multiple, Allele, education, Child, Allele frequency, Genetics (clinical), 030304 developmental biology, 0303 health sciences, education.field_of_study, Bone Development, Disease genetics, Disease model, 030305 genetics & heredity, Homozygote, Syndrome, medicine.disease, Osteochondrodysplasia, Founder Effect, Extracellular Matrix, Pedigree, Mice, Inbred C57BL, Scoliosis, Child, Preschool, Mutation, Female, medicine.symptom, Founder effect
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المؤلفون: Girish S. Shroff, Mark M. Hammer, Daniel Ocazionez, Kasra Rahbar, Sharyn I. Katz, Elizabeth Guy, Xiao Shi, Arun C. Nachiappan, Alan E Schlesinger, Eduardo J. Mortani Barbosa
المصدر: RadioGraphics. 37:52-72
مصطلحات موضوعية: medicine.medical_specialty, Tuberculosis, business.industry, Radiography, MEDLINE, Mycobacterium tuberculosis, medicine.disease, Bacterial Typing Techniques, 030218 nuclear medicine & medical imaging, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Pulmonary tuberculosis, health services administration, medicine, Humans, Radiography, Thoracic, Radiology, Nuclear Medicine and imaging, 030212 general & internal medicine, Radiology, business, Tuberculosis, Pulmonary
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db1e83df5308a81040a97b7ae02a6586
https://doi.org/10.1148/rg.2017160032 -
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المؤلفون: Mohammed Almannai, Alan E Schlesinger, Keren Machol, Richard A. Gibbs, Mahim Jain, Luisa Bonafé, Thibault Orand, Brendan Lee, Alyssa A. Tran, James T. Lu, Sheila Unger, Philippe M. Campeau, Lindsay C. Burrage, Yuqing Chen, Andrea Superti-Furga, Ana Belinda Campos-Xavier
المصدر: American Journal of Medical Genetics Part A. 173:733-739
مصطلحات موضوعية: Male, 0301 basic medicine, Genotype, genetic structures, Coxa vara, Osteochondrodysplasias, Short stature, Article, Diagnosis, Differential, 03 medical and health sciences, Genetics, Humans, Medicine, Exome, Collagen Type II, Alleles, Genetic Association Studies, Growth Disorders, Genetics (clinical), Fracture type, Bone Diseases, Developmental, Spondyloepimetaphyseal dysplasia, business.industry, High-Throughput Nucleotide Sequencing, Infant, Anatomy, musculoskeletal system, medicine.disease, Radiography, Tibial Fractures, Phenotype, 030104 developmental biology, Amino Acid Substitution, Spondylometaphyseal dysplasia, Dysplasia, Child, Preschool, Mutation, Hip Joint, medicine.symptom, Mild platyspondyly, business, Metaphyseal abnormalities
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المؤلفون: Qin Sun, Yaping Yang, Carlos A. Bacino, Alan E Schlesinger, Alecia Willis, Brendan Lee, Matthew T. Hardison, Marcus J. Miller, Lindsay C. Burrage, Pengfei Liu, Sarah H. Elsea, Jennifer E. Posey
المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 176-183 (2014)مصطلحات موضوعية: medicine.medical_specialty, Bone fractures, LPI, lysinuric protein intolerance, Nonsense mutation, Case Report, SLC7A7, Bioinformatics, Short stature, Gastroenterology, Endocrinology, Internal medicine, LH3, lysyl hydroxylase 3, Genetics, Medicine, lcsh:QH301-705.5, Lysinuric protein intolerance, Molecular Biology, Exome sequencing, lcsh:R5-920, business.industry, medicine.disease, 3. Good health, lcsh:Biology (General), Inborn error of metabolism, Failure to thrive, Speech delay, CMA, chromosomal microarray analysis, Osteoporosis, medicine.symptom, lcsh:Medicine (General), business, Pulmonary alveolar proteinosis, WES, whole exome sequencing
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المؤلفون: Brendan Lee, Caressa Lietman, Monica Grover, James T. Lu, Alan E Schlesinger, Richard A. Gibbs, Philippe M. Campeau
المصدر: Journal of Bone and Mineral Research. 28:2333-2337
مصطلحات موضوعية: Genetics, Mutation, Endocrinology, Diabetes and Metabolism, Biology, medicine.disease_cause, medicine.disease, Molecular biology, Membrane protein, Osteogenesis imperfecta, medicine, Hyperplastic callus formation, Orthopedics and Sports Medicine, Tibia, Gene, Exome sequencing, Calcification
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المؤلفون: Alan E Schlesinger, Richard A. Gibbs, James T. Lu, Carlos A. Bacino, Philippe M. Campeau, Timothy J. Moss, Brendan Lee, Lindsay C. Burrage, David S. Liu
المصدر: Clinical Dysmorphology. 22:76-80
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Pediatrics, Genetic counseling, Exosomes, Osteochondrodysplasias, Asymptomatic, Article, Pathology and Forensic Medicine, Rare Diseases, Skeletal disorder, medicine, Humans, Age of Onset, Family history, Collagen Type II, Genetics (clinical), Exome sequencing, business.industry, Brachydactyly, General Medicine, Toes, Hand, medicine.disease, Pedigree, Radiography, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Female, Anatomy, medicine.symptom, Age of onset, business, Rare disease
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6dc88a2b2826db1e1bb9d3cb54a2dd6
https://doi.org/10.1097/mcd.0b013e32835fff39 -
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المؤلفون: Alan E Schlesinger, Sherry S. Vinson, Lorraine Potocki, Weimin Bi, Erin Cooney
المصدر: American journal of medical genetics. Part A. 173(2)
مصطلحات موضوعية: 0301 basic medicine, Biology, Bioinformatics, Craniofacial Abnormalities, 03 medical and health sciences, 0302 clinical medicine, Locus heterogeneity, Intellectual disability, Genetics, medicine, Congenital Hypothyroidism, Humans, Abnormalities, Multiple, Exome, Physical Examination, Genetics (clinical), Exome sequencing, Genetic Association Studies, Weaver syndrome, Comparative Genomic Hybridization, EZH2, Macrocephaly, Polycomb Repressive Complex 2, Facies, Infant, Sequence Analysis, DNA, medicine.disease, 030104 developmental biology, Phenotype, Histone methyltransferase, Mutation, Female, medicine.symptom, Hand Deformities, Congenital, 030217 neurology & neurosurgery
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المؤلفون: Alan E Schlesinger, Amy R. Mehollin-Ray, Claudia A. Kozinetz, R. Paul Guillerman, Lisa L. Wang
المصدر: American Journal of Roentgenology. 191:W62-W66
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Genotype, Limb Deformities, Congenital, Radial aplasia, medicine, Humans, Radiology, Nuclear Medicine and imaging, Child, Rothmund–Thomson syndrome, Abnormal metaphyseal trabeculation, RecQ Helicases, business.industry, Rothmund-Thomson Syndrome, Infant, General Medicine, medicine.disease, Hypoplasia, Radiography, Osteopenia, Exact test, Phenotype, Child, Preschool, Mutation, Mutation (genetic algorithm), Mutation testing, Female, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b92d16f4d1e8ed8c8208ab0707bf01b
https://doi.org/10.2214/ajr.07.3619 -
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المؤلفون: Lindsay C. Burrage, Jennifer E. Posey, Sandesh C.S. Nagamani, James T. Lu, Tanya N. Eble, Lisa E. Kratz, Alan E Schlesinger, Richard A. Gibbs, Philippe M. Campeau, Brendan Lee
مصطلحات موضوعية: Adult, medicine.medical_specialty, Chondrodysplasia Punctata, Congenital ichthyosiform erythroderma, Molecular Sequence Data, Dwarfism, Steroid Isomerases, Short stature, Article, Cataract, Cataracts, Genes, X-Linked, Internal medicine, Genetics, medicine, Humans, Chondrodysplasia punctata, Exome, Family history, Genetics (clinical), Exome sequencing, Sequence Deletion, Base Sequence, business.industry, Ichthyosis, Genodermatosis, Alopecia, medicine.disease, Dermatology, Black or African American, Endocrinology, Female, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af9ed6fd2b60e2f751778fcd5eb70991
https://europepmc.org/articles/PMC4449285/