المؤلفون: Brittany E. Jewell (11886281), An Xu (24577), Dandan Zhu (513418), Mo-Fan Huang (9990698), Linchao Lu (11886284), Mo Liu (10658546), Erica L. Underwood (11886287), Jun Hyoung Park (411671), Huihui Fan (182099), Julian A. Gingold (9990701), Ruoji Zhou (11886290), Jian Tu (490588), Zijun Huo (11886293), Ying Liu (18461), Weidong Jin (3938906), Yi-Hung Chen (1506184), Yitian Xu (5146028), Shu-Hsia Chen (11886296), Nino Rainusso (10983403), Nathaniel K. Berg (11886299), Danielle A. Bazer (9990704), Christopher Vellano (7487243), Philip Jones (14235), Holger K. Eltzschig (11886302), Zhongming Zhao (40519), Benny Abraham Kaipparettu (411669), Ruiying Zhao (9752981), Lisa L. Wang (11886305), Dung-Fang Lee (9990710)

مصطلحات موضوعية: Biochemistry, Cell Biology, Genetics, Molecular Biology, Physiology, Developmental Biology, Hematology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, ribosomal protein genes, provides future insights, potential therapeutic target, pathological signaling leading, mitochondrial respiratory complex, decreased mapk signaling, significantly increased incidence, increased oxidative phosphorylation, increased atp production, multiple skeletal anomalies, impaired cell proliferation, div >< p, rts osteoblasts revealed, generated rts patient, skeletal anomalies, cell proliferation, increased h19, rts osteoblasts, rts patient, rts ipsc, vitro <

Relation: https://figshare.com/articles/figure/Characterization_of_RTS_and_FC_iPSCs_/17703413

الاتاحة: https://doi.org/10.1371/journal.pgen.1009971.s001

المؤلفون: Brittany E. Jewell (11886281), An Xu (24577), Dandan Zhu (513418), Mo-Fan Huang (9990698), Linchao Lu (11886284), Mo Liu (10658546), Erica L. Underwood (11886287), Jun Hyoung Park (411671), Huihui Fan (182099), Julian A. Gingold (9990701), Ruoji Zhou (11886290), Jian Tu (490588), Zijun Huo (11886293), Ying Liu (18461), Weidong Jin (3938906), Yi-Hung Chen (1506184), Yitian Xu (5146028), Shu-Hsia Chen (11886296), Nino Rainusso (10983403), Nathaniel K. Berg (11886299), Danielle A. Bazer (9990704), Christopher Vellano (7487243), Philip Jones (14235), Holger K. Eltzschig (11886302), Zhongming Zhao (40519), Benny Abraham Kaipparettu (411669), Ruiying Zhao (9752981), Lisa L. Wang (11886305), Dung-Fang Lee (9990710)

مصطلحات موضوعية: Biochemistry, Cell Biology, Genetics, Molecular Biology, Physiology, Developmental Biology, Hematology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, ribosomal protein genes, provides future insights, potential therapeutic target, pathological signaling leading, mitochondrial respiratory complex, decreased mapk signaling, significantly increased incidence, increased oxidative phosphorylation, increased atp production, multiple skeletal anomalies, impaired cell proliferation, div >< p, rts osteoblasts revealed, generated rts patient, skeletal anomalies, cell proliferation, increased h19, rts osteoblasts, rts patient, rts ipsc, vitro <

Relation: https://figshare.com/articles/figure/Characterization_of_RTS_and_FC_iPSCs_MSCs_and_osteoblasts_/17703416

الاتاحة: https://doi.org/10.1371/journal.pgen.1009971.s002

المؤلفون: Brittany E. Jewell (11886281), An Xu (24577), Dandan Zhu (513418), Mo-Fan Huang (9990698), Linchao Lu (11886284), Mo Liu (10658546), Erica L. Underwood (11886287), Jun Hyoung Park (411671), Huihui Fan (182099), Julian A. Gingold (9990701), Ruoji Zhou (11886290), Jian Tu (490588), Zijun Huo (11886293), Ying Liu (18461), Weidong Jin (3938906), Yi-Hung Chen (1506184), Yitian Xu (5146028), Shu-Hsia Chen (11886296), Nino Rainusso (10983403), Nathaniel K. Berg (11886299), Danielle A. Bazer (9990704), Christopher Vellano (7487243), Philip Jones (14235), Holger K. Eltzschig (11886302), Zhongming Zhao (40519), Benny Abraham Kaipparettu (411669), Ruiying Zhao (9752981), Lisa L. Wang (11886305), Dung-Fang Lee (9990710)

مصطلحات موضوعية: Biochemistry, Cell Biology, Genetics, Molecular Biology, Physiology, Developmental Biology, Hematology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, ribosomal protein genes, provides future insights, potential therapeutic target, pathological signaling leading, mitochondrial respiratory complex, decreased mapk signaling, significantly increased incidence, increased oxidative phosphorylation, increased atp production, multiple skeletal anomalies, impaired cell proliferation, div >< p, rts osteoblasts revealed, generated rts patient, skeletal anomalies, cell proliferation, increased h19, rts osteoblasts, rts patient, rts ipsc, vitro <

Relation: https://figshare.com/articles/figure/Metabolic_differences_between_RTS_and_FC_osteoblasts_/17703422

الاتاحة: https://doi.org/10.1371/journal.pgen.1009971.s004

المؤلفون: Brittany E. Jewell (11886281), An Xu (24577), Dandan Zhu (513418), Mo-Fan Huang (9990698), Linchao Lu (11886284), Mo Liu (10658546), Erica L. Underwood (11886287), Jun Hyoung Park (411671), Huihui Fan (182099), Julian A. Gingold (9990701), Ruoji Zhou (11886290), Jian Tu (490588), Zijun Huo (11886293), Ying Liu (18461), Weidong Jin (3938906), Yi-Hung Chen (1506184), Yitian Xu (5146028), Shu-Hsia Chen (11886296), Nino Rainusso (10983403), Nathaniel K. Berg (11886299), Danielle A. Bazer (9990704), Christopher Vellano (7487243), Philip Jones (14235), Holger K. Eltzschig (11886302), Zhongming Zhao (40519), Benny Abraham Kaipparettu (411669), Ruiying Zhao (9752981), Lisa L. Wang (11886305), Dung-Fang Lee (9990710)

مصطلحات موضوعية: Biochemistry, Cell Biology, Genetics, Molecular Biology, Physiology, Developmental Biology, Hematology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, ribosomal protein genes, provides future insights, potential therapeutic target, pathological signaling leading, mitochondrial respiratory complex, decreased mapk signaling, significantly increased incidence, increased oxidative phosphorylation, increased atp production, multiple skeletal anomalies, impaired cell proliferation, div >< p, rts osteoblasts revealed, generated rts patient, skeletal anomalies, cell proliferation, increased h19, rts osteoblasts, rts patient, rts ipsc, vitro <

Relation: https://figshare.com/articles/figure/Transcriptional_analysis_of_RTS_osteoblasts_and_osteosarcoma_/17703419

الاتاحة: https://doi.org/10.1371/journal.pgen.1009971.s003

المؤلفون: Brittany E. Jewell (11886281), An Xu (24577), Dandan Zhu (513418), Mo-Fan Huang (9990698), Linchao Lu (11886284), Mo Liu (10658546), Erica L. Underwood (11886287), Jun Hyoung Park (411671), Huihui Fan (182099), Julian A. Gingold (9990701), Ruoji Zhou (11886290), Jian Tu (490588), Zijun Huo (11886293), Ying Liu (18461), Weidong Jin (3938906), Yi-Hung Chen (1506184), Yitian Xu (5146028), Shu-Hsia Chen (11886296), Nino Rainusso (10983403), Nathaniel K. Berg (11886299), Danielle A. Bazer (9990704), Christopher Vellano (7487243), Philip Jones (14235), Holger K. Eltzschig (11886302), Zhongming Zhao (40519), Benny Abraham Kaipparettu (411669), Ruiying Zhao (9752981), Lisa L. Wang (11886305), Dung-Fang Lee (9990710)

مصطلحات موضوعية: Biochemistry, Cell Biology, Genetics, Molecular Biology, Physiology, Developmental Biology, Hematology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, ribosomal protein genes, provides future insights, potential therapeutic target, pathological signaling leading, mitochondrial respiratory complex, decreased mapk signaling, significantly increased incidence, increased oxidative phosphorylation, increased atp production, multiple skeletal anomalies, impaired cell proliferation, div >< p, rts osteoblasts revealed, generated rts patient, skeletal anomalies, cell proliferation, increased h19, rts osteoblasts, rts patient, rts ipsc, vitro <

Relation: https://figshare.com/articles/figure/Biological_effects_and_transcriptome_alterations_in_IACS-010759-treated_RTS_osteoblasts_/17703425

الاتاحة: https://doi.org/10.1371/journal.pgen.1009971.s005

المؤلفون: Brittany E. Jewell (11886281), An Xu (24577), Dandan Zhu (513418), Mo-Fan Huang (9990698), Linchao Lu (11886284), Mo Liu (10658546), Erica L. Underwood (11886287), Jun Hyoung Park (411671), Huihui Fan (182099), Julian A. Gingold (9990701), Ruoji Zhou (11886290), Jian Tu (490588), Zijun Huo (11886293), Ying Liu (18461), Weidong Jin (3938906), Yi-Hung Chen (1506184), Yitian Xu (5146028), Shu-Hsia Chen (11886296), Nino Rainusso (10983403), Nathaniel K. Berg (11886299), Danielle A. Bazer (9990704), Christopher Vellano (7487243), Philip Jones (14235), Holger K. Eltzschig (11886302), Zhongming Zhao (40519), Benny Abraham Kaipparettu (411669), Ruiying Zhao (9752981), Lisa L. Wang (11886305), Dung-Fang Lee (9990710)

مصطلحات موضوعية: Biochemistry, Cell Biology, Genetics, Molecular Biology, Physiology, Developmental Biology, Hematology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, ribosomal protein genes, provides future insights, potential therapeutic target, pathological signaling leading, mitochondrial respiratory complex, decreased mapk signaling, significantly increased incidence, increased oxidative phosphorylation, increased atp production, multiple skeletal anomalies, impaired cell proliferation, div >< p, rts osteoblasts revealed, generated rts patient, skeletal anomalies, cell proliferation, increased h19, rts osteoblasts, rts patient, rts ipsc, vitro <

Relation: https://figshare.com/articles/dataset/The_mutation_analysis_of_RTS-B2_and_RTS-B3_iPSCs_/17703428

الاتاحة: https://doi.org/10.1371/journal.pgen.1009971.s006

المؤلفون: Brittany E. Jewell (11886281), An Xu (24577), Dandan Zhu (513418), Mo-Fan Huang (9990698), Linchao Lu (11886284), Mo Liu (10658546), Erica L. Underwood (11886287), Jun Hyoung Park (411671), Huihui Fan (182099), Julian A. Gingold (9990701), Ruoji Zhou (11886290), Jian Tu (490588), Zijun Huo (11886293), Ying Liu (18461), Weidong Jin (3938906), Yi-Hung Chen (1506184), Yitian Xu (5146028), Shu-Hsia Chen (11886296), Nino Rainusso (10983403), Nathaniel K. Berg (11886299), Danielle A. Bazer (9990704), Christopher Vellano (7487243), Philip Jones (14235), Holger K. Eltzschig (11886302), Zhongming Zhao (40519), Benny Abraham Kaipparettu (411669), Ruiying Zhao (9752981), Lisa L. Wang (11886305), Dung-Fang Lee (9990710)

مصطلحات موضوعية: Biochemistry, Cell Biology, Genetics, Molecular Biology, Physiology, Developmental Biology, Hematology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, ribosomal protein genes, provides future insights, potential therapeutic target, pathological signaling leading, mitochondrial respiratory complex, decreased mapk signaling, significantly increased incidence, increased oxidative phosphorylation, increased atp production, multiple skeletal anomalies, impaired cell proliferation, div >< p, rts osteoblasts revealed, generated rts patient, skeletal anomalies, cell proliferation, increased h19, rts osteoblasts, rts patient, rts ipsc, vitro <

Relation: https://figshare.com/articles/figure/Clinical_characterization_of_Type_2_Rothmund-Thomson_Syndrome_patients_in_this_study_/17703431

الاتاحة: https://doi.org/10.1371/journal.pgen.1009971.g001

المؤلفون: Brittany E. Jewell (11886281), An Xu (24577), Dandan Zhu (513418), Mo-Fan Huang (9990698), Linchao Lu (11886284), Mo Liu (10658546), Erica L. Underwood (11886287), Jun Hyoung Park (411671), Huihui Fan (182099), Julian A. Gingold (9990701), Ruoji Zhou (11886290), Jian Tu (490588), Zijun Huo (11886293), Ying Liu (18461), Weidong Jin (3938906), Yi-Hung Chen (1506184), Yitian Xu (5146028), Shu-Hsia Chen (11886296), Nino Rainusso (10983403), Nathaniel K. Berg (11886299), Danielle A. Bazer (9990704), Christopher Vellano (7487243), Philip Jones (14235), Holger K. Eltzschig (11886302), Zhongming Zhao (40519), Benny Abraham Kaipparettu (411669), Ruiying Zhao (9752981), Lisa L. Wang (11886305), Dung-Fang Lee (9990710)

مصطلحات موضوعية: Biochemistry, Cell Biology, Genetics, Molecular Biology, Physiology, Developmental Biology, Hematology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, ribosomal protein genes, provides future insights, potential therapeutic target, pathological signaling leading, mitochondrial respiratory complex, decreased mapk signaling, significantly increased incidence, increased oxidative phosphorylation, increased atp production, multiple skeletal anomalies, impaired cell proliferation, div >< p, rts osteoblasts revealed, generated rts patient, skeletal anomalies, cell proliferation, increased h19, rts osteoblasts, rts patient, rts ipsc, vitro <

Relation: https://figshare.com/articles/figure/Generation_of_RTS_iPSCs_and_iPSC-derived_osteoblasts_/17703434

الاتاحة: https://doi.org/10.1371/journal.pgen.1009971.g002

المؤلفون: Brittany E. Jewell (11886281), An Xu (24577), Dandan Zhu (513418), Mo-Fan Huang (9990698), Linchao Lu (11886284), Mo Liu (10658546), Erica L. Underwood (11886287), Jun Hyoung Park (411671), Huihui Fan (182099), Julian A. Gingold (9990701), Ruoji Zhou (11886290), Jian Tu (490588), Zijun Huo (11886293), Ying Liu (18461), Weidong Jin (3938906), Yi-Hung Chen (1506184), Yitian Xu (5146028), Shu-Hsia Chen (11886296), Nino Rainusso (10983403), Nathaniel K. Berg (11886299), Danielle A. Bazer (9990704), Christopher Vellano (7487243), Philip Jones (14235), Holger K. Eltzschig (11886302), Zhongming Zhao (40519), Benny Abraham Kaipparettu (411669), Ruiying Zhao (9752981), Lisa L. Wang (11886305), Dung-Fang Lee (9990710)

مصطلحات موضوعية: Biochemistry, Cell Biology, Genetics, Molecular Biology, Physiology, Developmental Biology, Hematology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, ribosomal protein genes, provides future insights, potential therapeutic target, pathological signaling leading, mitochondrial respiratory complex, decreased mapk signaling, significantly increased incidence, increased oxidative phosphorylation, increased atp production, multiple skeletal anomalies, impaired cell proliferation, div >< p, rts osteoblasts revealed, generated rts patient, skeletal anomalies, cell proliferation, increased h19, rts osteoblasts, rts patient, rts ipsc, vitro <

Relation: https://figshare.com/articles/figure/Transcriptional_analysis_reveals_increased_OXPHOS_in_RTS_osteoblasts_/17703440

الاتاحة: https://doi.org/10.1371/journal.pgen.1009971.g003

المؤلفون: Brittany E. Jewell (11886281), An Xu (24577), Dandan Zhu (513418), Mo-Fan Huang (9990698), Linchao Lu (11886284), Mo Liu (10658546), Erica L. Underwood (11886287), Jun Hyoung Park (411671), Huihui Fan (182099), Julian A. Gingold (9990701), Ruoji Zhou (11886290), Jian Tu (490588), Zijun Huo (11886293), Ying Liu (18461), Weidong Jin (3938906), Yi-Hung Chen (1506184), Yitian Xu (5146028), Shu-Hsia Chen (11886296), Nino Rainusso (10983403), Nathaniel K. Berg (11886299), Danielle A. Bazer (9990704), Christopher Vellano (7487243), Philip Jones (14235), Holger K. Eltzschig (11886302), Zhongming Zhao (40519), Benny Abraham Kaipparettu (411669), Ruiying Zhao (9752981), Lisa L. Wang (11886305), Dung-Fang Lee (9990710)

مصطلحات موضوعية: Biochemistry, Cell Biology, Genetics, Molecular Biology, Physiology, Developmental Biology, Hematology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, ribosomal protein genes, provides future insights, potential therapeutic target, pathological signaling leading, mitochondrial respiratory complex, decreased mapk signaling, significantly increased incidence, increased oxidative phosphorylation, increased atp production, multiple skeletal anomalies, impaired cell proliferation, div >< p, rts osteoblasts revealed, generated rts patient, skeletal anomalies, cell proliferation, increased h19, rts osteoblasts, rts patient, rts ipsc, vitro <

Relation: https://figshare.com/articles/figure/Metabolic_differences_between_RTS_and_FC_osteoblasts_demonstrate_the_role_of_OXPHOS_in_increasing_ATP_production_in_RTS_osteoblasts_/17703443

الاتاحة: https://doi.org/10.1371/journal.pgen.1009971.g004

المؤلفون: Brittany E. Jewell (11886281), An Xu (24577), Dandan Zhu (513418), Mo-Fan Huang (9990698), Linchao Lu (11886284), Mo Liu (10658546), Erica L. Underwood (11886287), Jun Hyoung Park (411671), Huihui Fan (182099), Julian A. Gingold (9990701), Ruoji Zhou (11886290), Jian Tu (490588), Zijun Huo (11886293), Ying Liu (18461), Weidong Jin (3938906), Yi-Hung Chen (1506184), Yitian Xu (5146028), Shu-Hsia Chen (11886296), Nino Rainusso (10983403), Nathaniel K. Berg (11886299), Danielle A. Bazer (9990704), Christopher Vellano (7487243), Philip Jones (14235), Holger K. Eltzschig (11886302), Zhongming Zhao (40519), Benny Abraham Kaipparettu (411669), Ruiying Zhao (9752981), Lisa L. Wang (11886305), Dung-Fang Lee (9990710)

مصطلحات موضوعية: Biochemistry, Cell Biology, Genetics, Molecular Biology, Physiology, Developmental Biology, Hematology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, ribosomal protein genes, provides future insights, potential therapeutic target, pathological signaling leading, mitochondrial respiratory complex, decreased mapk signaling, significantly increased incidence, increased oxidative phosphorylation, increased atp production, multiple skeletal anomalies, impaired cell proliferation, div >< p, rts osteoblasts revealed, generated rts patient, skeletal anomalies, cell proliferation, increased h19, rts osteoblasts, rts patient, rts ipsc, vitro <

Relation: https://figshare.com/articles/figure/Inhibition_of_mitochondrial_respiratory_complex_I_specifically_impairs_ATP_respiration_reliance_on_OXPHOS_and_survival_in_RTS_osteoblasts_/17703446

الاتاحة: https://doi.org/10.1371/journal.pgen.1009971.g005

المؤلفون: Brittany E. Jewell (11886281), An Xu (24577), Dandan Zhu (513418), Mo-Fan Huang (9990698), Linchao Lu (11886284), Mo Liu (10658546), Erica L. Underwood (11886287), Jun Hyoung Park (411671), Huihui Fan (182099), Julian A. Gingold (9990701), Ruoji Zhou (11886290), Jian Tu (490588), Zijun Huo (11886293), Ying Liu (18461), Weidong Jin (3938906), Yi-Hung Chen (1506184), Yitian Xu (5146028), Shu-Hsia Chen (11886296), Nino Rainusso (10983403), Nathaniel K. Berg (11886299), Danielle A. Bazer (9990704), Christopher Vellano (7487243), Philip Jones (14235), Holger K. Eltzschig (11886302), Zhongming Zhao (40519), Benny Abraham Kaipparettu (411669), Ruiying Zhao (9752981), Lisa L. Wang (11886305), Dung-Fang Lee (9990710)

مصطلحات موضوعية: Biochemistry, Cell Biology, Genetics, Molecular Biology, Physiology, Developmental Biology, Hematology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, ribosomal protein genes, provides future insights, potential therapeutic target, pathological signaling leading, mitochondrial respiratory complex, decreased mapk signaling, significantly increased incidence, increased oxidative phosphorylation, increased atp production, multiple skeletal anomalies, impaired cell proliferation, div >< p, rts osteoblasts revealed, generated rts patient, skeletal anomalies, cell proliferation, increased h19, rts osteoblasts, rts patient, rts ipsc, vitro <

Relation: https://figshare.com/articles/dataset/Clinical_characteristics_of_RTS_Type_2_individuals_with_RECQL4_mutations_/17703452

الاتاحة: https://doi.org/10.1371/journal.pgen.1009971.t001

المؤلفون: Allison J de Moya, Leslie G. Biesecker, Julie C. Sapp, Christopher A Ours, Mia B Hodges

المصدر: Cold Spring Harbor Molecular Case Studies

مصطلحات موضوعية: Male, Research Report, medicine.medical_specialty, Aminopyridines, AKT1, Proteus Syndrome, bone pain, Internal medicine, Humans, Medicine, connective tissue nevi, Bone pain, overgrowth, Protein kinase B, multiple skeletal anomalies, Connective tissue nevus, business.industry, Imidazoles, Soft tissue, Cancer, General Medicine, medicine.disease, Disfigurement, Proteus syndrome, medicine.symptom, business, Proto-Oncogene Proteins c-akt

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3a57d461b75e9c8b483c057bc4054e4
https://doi.org/10.1101/mcs.a006134

المؤلفون: M. Reza Sailani, Safoura Mazrouei, Anil Narasimha, Jonathan A. Bernstein, Amin Zia, Janet Linnea Lynch, Omid Aryani, Michael Snyder, Inlora Jingga, James Chappell

المصدر: Cold Spring Harbor Molecular Case Studies

مصطلحات موضوعية: 030203 arthritis & rheumatology, 0301 basic medicine, Research Report, Pathology, medicine.medical_specialty, Spondyloepimetaphyseal dysplasia, Consanguineous family, business.industry, Articular cartilage, General Medicine, medicine.disease, Progressive pseudorheumatoid dysplasia, WISP3 Gene, spondyloepimetaphyseal dysplasia, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Dysplasia, Mutation (genetic algorithm), Medicine, Multiple skeletal anomalies, business, multiple skeletal anomalies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5e1be40b98e230fd25d7bb93ba4dbec
http://europepmc.org/articles/PMC5793776

المؤلفون: Bruno F. Gamba, Lucilene Arilho Ribeiro-Bicudo, Siulan Vendramini-Pittoli, Nancy Mizue Kokitsu-Nakata, Ana C.V. Krepischi Santos, Carla Rosenberg, Roseli Maria Zechi-Ceide, Antonio Richieri-Costa

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

مصطلحات موضوعية: 0301 basic medicine, Microcephaly, medicine.medical_specialty, business.industry, Skeletal anomalies, DELEÇÃO DE GENES, Dysmorphic face, Scoliosis, Anatomy, Audiology, medicine.disease, DUF1220, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Novel Insights from Clinical Practice, Intellectual disability, Genetics, Medicine, Multiple skeletal anomalies, Deletion syndrome, business, 030217 neurology & neurosurgery, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3eb70c73d28caaaba62d58d9d95c4189
https://doi.org/10.1159/000450971

المؤلفون: Isaac E. Lloyd, Sarah T. South, Christian N. Paxton, Lance K. Erickson, Leslie R. Rowe, Mouied Alashari

المصدر: Pediatric and Developmental Pathology. 17:360-365

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Skeletal anomalies, Partial anomalous pulmonary venous return, Vena Cava, Inferior, 030209 endocrinology & metabolism, Autopsy, 030204 cardiovascular system & hematology, Pathology and Forensic Medicine, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Scimitar syndrome, Humans, Medicine, Anomalous pulmonary venous return, Abnormalities, Multiple, Lung, Oligonucleotide Array Sequence Analysis, business.industry, Microarray analysis techniques, Scimitar Syndrome, Infant, Newborn, Infant, Genomics, General Medicine, respiratory system, medicine.disease, Embryology, Pediatrics, Perinatology and Child Health, Female, Multiple skeletal anomalies, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8326265f2bceeae9dc7d7238e5edb284
https://doi.org/10.2350/14-04-1474-cr.1

المؤلفون: Ashim Das, Kiran Krishne Gowda, Suvradeep Mitra, Debajyoti Chatterjee

المصدر: Fetal and pediatric pathology. 35(3)

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Oligohydramnios, Autopsy, Wilms Tumor, Pathology and Forensic Medicine, 03 medical and health sciences, Pulmonary hypoplasia, 0302 clinical medicine, Pregnancy, 030225 pediatrics, medicine, Humans, Muscle, Skeletal, Index case, business.industry, Infant, Newborn, Wilms' tumor, General Medicine, medicine.disease, Ductal Plate Malformation, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Multiple skeletal anomalies, Polysplenia, Female, Kidney Diseases, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cf67693cb907fb48f5176c2c73eedff
https://pubmed.ncbi.nlm.nih.gov/27054810

المؤلفون: Murvet Yuksel, Gonul Parmaksiz, K. Zafer Yuksel, Hamza Karabiber

المصدر: Korean Journal of Radiology

مصطلحات موضوعية: musculoskeletal diseases, Male, medicine.medical_specialty, Klippel–Feil syndrome, Computed tomography (CT), three-dimensional, Case Report, Multiple cervical vertebrae, Bone and Bones, Imaging, Three-Dimensional, Mitral valve, medicine, Humans, Radiology, Nuclear Medicine and imaging, Child, Rib cage, Spina bifida, business.industry, medicine.disease, Hypoplasia, medicine.anatomical_structure, Klippel-Feil Syndrome, Multiple skeletal anomalies, Radiology, business, Tomography, X-Ray Computed, Renal pelvis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::222ed3c639d218679c8ed94df923c3e2
http://europepmc.org/articles/PMC2684975

المؤلفون: Maria Iascone, Antonio Novelli, Paola Grammatico, Maria Elena Sana, Peter Nürnberg, Marco Castori, Valentina Parisi, Giulia Pascolini

المصدر: American journal of medical genetics. Part A. (4)

مصطلحات موضوعية: Ectodermal dysplasia, Microcephaly, Cerebro, Ectodermal Dysplasia, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), business.industry, atrichia, synostosis, Facies, Alopecia, Anatomy, Syndrome, medicine.disease, alopecia, ectodermal dysplasia, intellectual disability, microcephaly, syndactyly, Radiography, Facial appearance, Dysplasia, Original report, Child, Preschool, Multiple skeletal anomalies, Female, Syndactyly, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1caf315e7314985218bd4f6d867fcb86
https://pubmed.ncbi.nlm.nih.gov/25708316

المؤلفون: Joseph A. Gonzales, Amit K. Sharma

المصدر: HSS Journal®: The Musculoskeletal Journal of Hospital for Special Surgery. 5:120-122

مصطلحات موضوعية: Hypertrichosis, medicine.medical_specialty, Pediatrics, business.industry, Schinzel–Giedion syndrome, Case Report, Scoliosis, medicine.disease, Rheumatology, stomatognathic system, Internal medicine, Orthopedic surgery, medicine, Midface retraction, Orthopedics and Sports Medicine, Surgery, Multiple skeletal anomalies, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96554e4cf26ecf607c7de3a5b2eedae9
https://doi.org/10.1007/s11420-009-9111-1