المؤلفون: Ioannis G. Koutlas, Ana-Lia Anbinder, Rana Alshagroud, Ana Sueli Rodrigues Cavalcante, Mohammed Al Kindi, Molly M. Crenshaw, Julie C. Sapp, Hannah Kondolf, Marjorie J. Lindhurst, Jeffrey N. Dudley, Jennifer J. Johnston, Elyse Ryan, Keith Rafferty, Arupa Ganguly, Leslie G. Biesecker

المصدر: HGG Advances, Vol 3, Iss 1, Pp 100062- (2022)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247721000439; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/017b05f957204e46ba10448d5a293aef

المؤلفون: Ioannis G. Koutlas, Ana-Lia Anbinder, Rana Alshagroud, Ana Sueli Rodrigues Cavalcante, Mohammed Al Kindi, Molly M. Crenshaw, Julie C. Sapp, Hannah Kondolf, Marjorie J. Lindhurst, Jeffrey N. Dudley, Jennifer J. Johnston, Elyse Ryan, Keith Rafferty, Arupa Ganguly, Leslie G. Biesecker

المصدر: HGG Advances, Vol 1, Iss 1, Pp 100009- (2020)

مصطلحات موضوعية: PIK3CA, overgrowth, oral mucosa, face, peripheral nerve, perineurium, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247720300099; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/a0f4c2b0f4914489a3dac8b25fd7a8bc

المؤلفون: Carl A. Machutta, Christopher S. Kollmann, Kenneth E. Lind, Xiaopeng Bai, Pan F. Chan, Jianzhong Huang, Lluis Ballell, Svetlana Belyanskaya, Gurdyal S. Besra, David Barros-Aguirre, Robert H. Bates, Paolo A. Centrella, Sandy S. Chang, Jing Chai, Anthony E. Choudhry, Aaron Coffin, Christopher P. Davie, Hongfeng Deng, Jianghe Deng, Yun Ding, Jason W. Dodson, David T. Fosbenner, Enoch N. Gao, Taylor L. Graham, Todd L. Graybill, Karen Ingraham, Walter P. Johnson, Bryan W. King, Christopher R. Kwiatkowski, Joël Lelièvre, Yue Li, Xiaorong Liu, Quinn Lu, Ruth Lehr, Alfonso Mendoza-Losana, John Martin, Lynn McCloskey, Patti McCormick, Heather P. O’Keefe, Thomas O’Keeffe, Christina Pao, Christopher B. Phelps, Hongwei Qi, Keith Rafferty, Genaro S. Scavello, Matt S. Steiginga, Flora S. Sundersingh, Sharon M. Sweitzer, Lawrence M. Szewczuk, Amy Taylor, May Fern Toh, Juan Wang, Minghui Wang, Devan J. Wilkins, Bing Xia, Gang Yao, Jean Zhang, Jingye Zhou, Christine P. Donahue, Jeffrey A. Messer, David Holmes, Christopher C. Arico-Muendel, Andrew J. Pope, Jeffrey W. Gross, Ghotas Evindar

المصدر: Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/a0c4424f2eeb46a689586e4828ae7887

المؤلفون: Carl A. Machutta, Christopher S. Kollmann, Kenneth E. Lind, Xiaopeng Bai, Pan F. Chan, Jianzhong Huang, Lluis Ballell, Svetlana Belyanskaya, Gurdyal S. Besra, David Barros-Aguirre, Robert H. Bates, Paolo A. Centrella, Sandy S. Chang, Jing Chai, Anthony E. Choudhry, Aaron Coffin, Christopher P. Davie, Hongfeng Deng, Jianghe Deng, Yun Ding, Jason W. Dodson, David T. Fosbenner, Enoch N. Gao, Taylor L. Graham, Todd L. Graybill, Karen Ingraham, Walter P. Johnson, Bryan W. King, Christopher R. Kwiatkowski, Joël Lelièvre, Yue Li, Xiaorong Liu, Quinn Lu, Ruth Lehr, Alfonso Mendoza-Losana, John Martin, Lynn McCloskey, Patti McCormick, Heather P. O’Keefe, Thomas O’Keeffe, Christina Pao, Christopher B. Phelps, Hongwei Qi, Keith Rafferty, Genaro S. Scavello, Matt S. Steiginga, Flora S. Sundersingh, Sharon M. Sweitzer, Lawrence M. Szewczuk, Amy Taylor, May Fern Toh, Juan Wang, Minghui Wang, Devan J. Wilkins, Bing Xia, Gang Yao, Jean Zhang, Jingye Zhou, Christine P. Donahue, Jeffrey A. Messer, David Holmes, Christopher C. Arico-Muendel, Andrew J. Pope, Jeffrey W. Gross, Ghotas Evindar

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-1 (2018)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/ee8d0f7b2ad14f48b638c180d558c296

المؤلفون: Leslie G. Biesecker, Arupa Ganguly, Julie C. Sapp, Jeffrey N. Dudley, Jennifer J. Johnston, Elyse Ryan, Rana Alshagroud, Mohammed Al Kindi, Molly M. Crenshaw, Ana-Lia Anbinder, Ioannis G. Koutlas, Marjorie J. Lindhurst, Ana Sueli Rodrigues Cavalcante, Keith Rafferty, Hannah C. Kondolf

المساهمون: University of Minnesota, Universidade Estadual Paulista (UNESP), King Saud University, National Human Genome Research Institute, University of Pennsylvania Perelman School of Medicine

المصدر: Human Genetics and Genomics Advances
Scopus
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
HGG Advances, Vol 1, Iss 1, Pp 100009-(2020)
HGG Advances, Vol 3, Iss 1, Pp 100062-(2022)

مصطلحات موضوعية: pseudo-onion bulbs, Pathology, medicine.medical_specialty, QH426-470, Onion bulb, Perineurial Cell, Article, Peripheral nerve, Genetics, perineurium, Medicine, Oral mucosa, overgrowth, Genetics (clinical), oral mucosa, business.industry, face, Correction, PIK3CA, Hyperplasia, medicine.disease, medicine.anatomical_structure, peripheral nerve, Molecular Medicine, business, Perineurium

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47931cff980b0356650d61b209a73b5d
https://doi.org/10.1016/j.xhgg.2021.100062

المؤلفون: Arupa Ganguly, Elyse Ryan, Ioannis G. Koutlas, Keith Rafferty, Tanya M. Gibson

المصدر: Head Neck Pathol

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Panoramic radiograph, Class I Phosphatidylinositol 3-Kinases, Case Reports, Mandible, Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, stomatognathic system, Segmental odontomaxillary dysplasia, Maxilla, Odontodysplasia, Medicine, Humans, Child, business.industry, Soft tissue, medicine.disease, stomatognathic diseases, 030104 developmental biology, Oncology, Otorhinolaryngology, Dysplasia, 030220 oncology & carcinogenesis, Gingival Hyperplasia, Oral and maxillofacial surgery, Female, Abnormality, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::920bb6056dc5b1616c58495d0e4b1b27
https://europepmc.org/articles/PMC8010023/

المؤلفون: Keith Rafferty, Tapan Ganguly, Richard Grant, Arupa Ganguly, Jennifer M. Kalish, Jennifer Marie Rosado, Erik Toorens, Emilie Lalonde, Jennifer Richards-Yutz, Jessica Ebrahimzadeh, Matthew A. Deardorff, Erica Schindewolf

المصدر: Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: 0301 basic medicine, Lineage (genetic), Somatic cell, Class I Phosphatidylinositol 3-Kinases, Vascular Malformations, 030105 genetics & heredity, Biology, somatic overgrowth, Single Center, DNA sequencing, Proteus Syndrome, 03 medical and health sciences, Unknown Significance, Sturge-Weber Syndrome, Genetics, medicine, Humans, Diagnostic laboratory, Genetic Testing, Molecular Biology, Nevus, Genetics (clinical), Original Articles, Sequence Analysis, DNA, medicine.disease, Phenotype, PIK3CA‐related overgrowth spectrum, Proteus syndrome, Musculoskeletal Abnormalities, 030104 developmental biology, mosaicism, Mutation, Original Article, Lipoma

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::759e173e8c5ced33cb1b54f0ee6f376e
http://europepmc.org/articles/PMC6418364

المؤلفون: Jeffrey A. Messer, Yun Ding, Jianghe Deng, Paolo A. Centrella, Todd L. Graybill, Jean Zhang, Patti McCormick, Carl A. Machutta, Robert H. Bates, John Martin, Joël Lelièvre, Quinn Lu, Jingye Zhou, Alfonso Mendoza-Losana, Xiaopeng Bai, Christopher S. Kollmann, David J. Holmes, Keith Rafferty, Christina S. Pao, Christopher C. Arico-Muendel, Heather O’Keefe, Aaron Coffin, Taylor L. Graham, David Barros-Aguirre, Sandy Chang, Christopher P. Davie, Hongwei Qi, Flora S. Sundersingh, Minghui Wang, Karen A. Ingraham, Jing Chai, Thomas O’Keeffe, Juan Wang, Gang Yao, Lluis Ballell, Jianzhong Huang, Anthony E. Choudhry, Bryan W. King, Andrew J. Pope, Ghotas Evindar, Xiaorong Liu, May Fern Toh, Christine Patricia Donahue, Jeffrey W. Gross, Pan F. Chan, Walter P. Johnson, Ruth Lehr, Hongfeng Deng, Kenneth E Lind, Matt S. Steiginga, Jason W. Dodson, Gurdyal S. Besra, Amy N. Taylor, Devan J. Wilkins, Yue Li, Lawrence M. Szewczuk, Svetlana L. Belyanskaya, Genaro S. Scavello, Sharon Sweitzer, Christopher R. Kwiatkowski, Lynn McCloskey, Bing Xia, Enoch Gao, Christopher B. Phelps, David T. Fosbenner

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-1 (2018)

مصطلحات موضوعية: chemistry.chemical_compound, Multidisciplinary, chemistry, Computer science, Science, General Physics and Astronomy, General Chemistry, Computational biology, General Biochemistry, Genetics and Molecular Biology, DNA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d87eaf46a6638b2650fa3a4f95e4cf2b
https://doi.org/10.1038/ncomms16227

المؤلفون: Todd L. Graybill, John D. Martin, Jason W. Dodson, Hongfeng Deng, Christopher P. Davie, Christopher C. Arico-Muendel, Minghui Wang, Hongwei Qi, Sandy S. Chang, David J. Holmes, Karen A. Ingraham, Kenneth E Lind, Heather O’Keefe, Carl A. Machutta, David Barros-Aguirre, Christine Patricia Donahue, Christina S. Pao, Jeffrey W. Gross, Ghotas Evindar, Jean Zhang, Bing Xia, Juan Wang, Patti McCormick, Xiaorong Liu, Jianzhong Huang, Joël Lelièvre, Quinn Lu, Pan F. Chan, Matt S. Steiginga, Lynn McCloskey, Christopher S. Kollmann, Taylor L. Graham, Xiaopeng Bai, Jing Chai, Yue Li, Walter P. Johnson, Ruth Lehr, Lawrence M. Szewczuk, Jingye Zhou, Lluis Ballell, Genaro S. Scavello, Robert H. Bates, Anthony E. Choudhry, Aaron Coffin, Sharon Sweitzer, Christopher R. Kwiatkowski, Andrew J. Pope, Enoch Gao, Christopher B. Phelps, David T. Fosbenner, Keith Rafferty, Thomas O’Keeffe, Gang Yao, Bryan W. King, Svetlana L. Belyanskaya, May Fern Toh, Gurdyal S. Besra, Amy N. Taylor, Devan J. Wilkins, Alfonso Mendoza-Losana, Paolo A. Centrella, Flora S. Sundersingh, Jeffrey A. Messer, Yun Ding, Jianghe Deng

المصدر: Nature Communications
Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)

مصطلحات موضوعية: 0301 basic medicine, Acinetobacter baumannii, Staphylococcus aureus, Computer science, Science, Drug Evaluation, Preclinical, General Physics and Astronomy, Computational biology, Bioinformatics, Article, General Biochemistry, Genetics and Molecular Biology, Small Molecule Libraries, 03 medical and health sciences, chemistry.chemical_compound, Drug Discovery, Molecular Targeted Therapy, Gene Library, Multidisciplinary, Drug discovery, Correction, General Chemistry, Mycobacterium tuberculosis, Anti-Bacterial Agents, 030104 developmental biology, chemistry, Identification (biology), DNA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fd5399c3ed244a244dc84c19085f169
https://pubmed.ncbi.nlm.nih.gov/30004092