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1دورية أكاديمية
المؤلفون: Philip F. Giampietro, Nancy Hadley-Miller, Cathy L. Raggio
المصدر: Genes, Vol 13, Iss 7, p 1194 (2022)
وصف الملف: electronic resource
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المؤلفون: Robert D. Steiner, Yael Lebenthal, Aideen M. McInerney-Leo, Yline Capri, Daphné Lehalle, Adi Mory, Grażyna G Krzemień, Cathy L. Raggio, Monika Miklaszewska, Robert D. Blank, Hila Milo Rasouly, Ali G. Gharavi, Annabelle Enriquez, David T. Humphreys, Emma L. Duncan, Gavin Chapman, Elizabeth Wohler, Paul Leo, Jeanne Amiel, Eddie Ip, Clémantine Dimartino, Christopher T. Gordon, Yael Wilnai, Eleni Giannoulatou, Duncan B. Sparrow, Joelene A Greasby, Hagit Baris Feldman, Delicia Sheng, Rebekah Jobling, Kavitha R Iyer, Philip F Giampietro, Ella M M A Martin, Sally L. Dunwoodie, Nara Sobreira
المصدر: Hum Mol Genet
مصطلحات موضوعية: 0301 basic medicine, Heart Defects, Congenital, Heterozygote, RNA Splicing, Limb Deformities, Congenital, Anal Canal, Haploinsufficiency, Biology, Kidney, 03 medical and health sciences, Mice, 0302 clinical medicine, Esophagus, Loss of Function Mutation, Genetics, medicine, Missense mutation, Animals, Humans, Abnormalities, Multiple, Allele, Molecular Biology, Renal agenesis, Genetics (clinical), Heterozygote advantage, General Medicine, medicine.disease, VACTERL association, Null allele, Spine, DNA-Binding Proteins, Trachea, 030104 developmental biology, WBP11, RNA Splicing Factors, General Article, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d9229c8b2fbc5fe323701900de73f4f
https://doi.org/10.1093/hmg/ddaa258 -
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المؤلفون: Matthew A. Halanski, Gavin Chapman, Nan Wu, Elizabeth Wohler, Robert D. Blank, Sarah Sund, Blaise A. Nemeth, Nara Sobreira, Philip F Giampietro, Guixing Qiu, Ken Noonan, Sally L. Dunwoodie, Robert D. Steiner, Jianguo Zhang, Sen Zhao, Renan Paulo Martin, Ingrid Glurich, Jianxiong Shen, Noura Al Dhaheri, Zhihong Wu, Cathy L. Raggio
المصدر: Am J Med Genet A
مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Candidate gene, Heterozygote, Adolescent, Genome-wide association study, 030105 genetics & heredity, Biology, Thoracic Vertebrae, Article, 03 medical and health sciences, Genetic variation, Databases, Genetic, Genetics, Humans, Child, Gene, Genetics (clinical), Exome sequencing, Homozygote, Proteins, 030104 developmental biology, Codon, Nonsense, Cohort, Etiology, Cervical Vertebrae, Female, Spinal Diseases
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المؤلفون: Sally L. Dunwoodie, Nancy Hadley-Miller, Kenneth M.C. Cheung, Ryan S. Gray, Carol Wise, Christina A. Gurnett, Philip F. Giampietro, Peter D. Turnpenny, Olivier Pourquié, Kenro Kusumi, Cathy L. Raggio, Shiro Ikegawa, Benjamin A. Alman
المصدر: American Journal of Medical Genetics Part A. 176:253-256
مصطلحات موضوعية: 0301 basic medicine, Genetics, business.industry, Idiopathic scoliosis, Scoliosis, medicine.disease, Vertebral anomalies, Article, 03 medical and health sciences, 030104 developmental biology, Single entity, Spine deformity, Medicine, business, Genetics (clinical), Congenital scoliosis
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المؤلفون: Alberto Santiago-Cornier, Robert D. Blank, Alexander Stoddard, David A. Sweetser, Michael A. Pickart, Enid Neptune, Nara Sobrera, Rachel Lorier, Philip F. Giampietro, Linlea Armstrong, Kristen Rasmussen, Amy Turner, Ulrich Broeckel, Sarah Sund, Cathy L. Raggio, Janet Livingston
المصدر: American Journal of Medical Genetics Part A. 167:95-102
مصطلحات موضوعية: Male, DNA Mutational Analysis, Nuclear Family, Fathers, Chromosome Segregation, Genetics, Humans, Medicine, Missense mutation, Exome, Family, Craniofacial, Child, Genetic Association Studies, Genetics (clinical), Exome sequencing, business.industry, Genetic heterogeneity, fungi, Infant, Newborn, Computational Biology, DNA-Directed RNA Polymerases, medicine.disease, Hypoplasia, Pedigree, Klippel feil, Klippel-Feil Syndrome, Mutation, Mutation (genetic algorithm), Female, business, Treacher Collins syndrome, Mandibulofacial Dysostosis
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المؤلفون: Cathy L. Raggio, Robert D. Blank, Philip F. Giampietro
المصدر: Open Journal of Orthopedics. :62-68
مصطلحات موضوعية: Genetics, Candidate gene, Somite, medicine.anatomical_structure, Somitogenesis, Gene regulatory network, medicine, Human genome, Biology, Gene, Genome, Synteny
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8e6fb84989ac72cb4da55cfcda3e6805
https://doi.org/10.4236/ojo.2012.22013 -
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المصدر: Clinical Reviews in Bone and Mineral Metabolism. 6:46-52
مصطلحات موضوعية: musculoskeletal diseases, Bone mineral, Marfan syndrome, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Osteoporosis, Homocystinuria, medicine.disease, Bioinformatics, Rheumatology, Endocrinology, Internal medicine, medicine, Etiology, Orthopedics and Sports Medicine, In patient, business
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المؤلفون: Robert D. Blank, Philip F. Giampietro, Cathy L. Raggio
المصدر: Journal of Medical Genetics. 51:354-354
مصطلحات موضوعية: Fetal Proteins, Male, Genetics, Sacrum, Brachyury, medicine.medical_specialty, Ossification, Heterotopic, Notochord, Abnormal ossification, Biology, Sacral Agenesis, Spine, medicine.anatomical_structure, medicine, Humans, Missense mutation, Medical genetics, Abnormalities, Multiple, Female, T-Box Domain Proteins, Gene, Genetics (clinical)