المؤلفون: Idrees A. Shah, Hari Prasad, Sanghita Banerjee, Reuben Thomas Kurien, Sudipta Dhar Chowdhury, Sandhya S. Visweswariah

المصدر: Frontiers in Genetics, Vol 13 (2023)

مصطلحات موضوعية: pancreatitis, CaSR, FGF23, WES - whole-exome sequencing, TRPV6 (transient receptor potential cation channel subfamily V member 6), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.1058057/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/46b3dd9a49ba4d1b9fd1807e4b1344e2

المؤلفون: Melinda Erdős, Oksana Boyarchuk, László Maródi

المصدر: Frontiers in Immunology, Vol 13 (2022)

مصطلحات موضوعية: signal recognition particle, cyclic neutropenia, granulocyte - colony-stimulating factor (G-CSF), autosomal dominant disease, WES - whole-exome sequencing, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2022.975017/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/8d3704b595f241a7b56162c6eba992fa

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Fen-fen Ou, Ming-jie Li, Li-bin Mei, Xin-Zhu Lin, Yan-an Wu

المصدر: Frontiers in Pediatrics, Vol 9 (2022)

مصطلحات موضوعية: congenital short bowel syndrome, CLMP gene, homozygous deletion, quantitative PCR, WES-whole-exome sequencing, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.778859/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/459fe8a9d618403c8a87cf14db3611be

المؤلفون: Yudong Cai, Tao Huang, Peilin Jia

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: artificial intelligence, NGS - next generation sequencing, non-invasive prenatal testing (NIPT), WGS - whole-genome sequencing, WES - whole-exome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2020.600902/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/33a38c2d2e7948f8a0c5b032525d859e

المؤلفون: Koifman, Arie^Aff4, Chitayat, David^Aff5, Bashiri, Asher^Aff6

المساهمون: Bashiri, Asher, editor^Aff1, Harlev, Avi, editor^Aff2, Agarwal, Ashok, editor^Aff3

المصدر: Recurrent Pregnancy Loss : Evidence-Based Evaluation, Diagnosis and Treatment. :53-65

Degree: MD
MD, FABMG, FACMG, FCCMG, FRCPC

المؤلفون: Safa Eltahir, Wadha Alotaibi, Khalid Al-Mobaireek, Abdulali P. Zada, Adnan Zafar, Gawahir Mukhtar, Mohammed Alzaid, Mohammed Almannai

المصدر: International Journal of Pediatrics and Adolescent Medicine, Vol 8, Iss 4, Pp 258-263 (2021)
International Journal of Pediatrics & Adolescent Medicine

مصطلحات موضوعية: IDA, inner dynein arm, medicine.medical_specialty, Genetic testing, 050402 sociology, BMI, body mass index, Population, Pediatrics, WES, whole-exome sequencing, RJ1-570, 03 medical and health sciences, Primary ciliary dyskinesia, 0302 clinical medicine, 0504 sociology, 030225 pediatrics, Internal medicine, Electron microscopy, otorhinolaryngologic diseases, Medicine, education, nNO, nasal nitric oxide, education.field_of_study, Bronchiectasis, PCD, Primary ciliary dyskinesia, medicine.diagnostic_test, TEM, Transmission electron microscopy, business.industry, 05 social sciences, medicine.disease, HSVA, high-speed video microscopy analysis, NGS, next-generation sequencing, Situs inversus, Ciliopathy, ODA, outer dynein arm, Pediatrics, Perinatology and Child Health, Motile cilium, Original Article, Median body, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f48bfe24a47f0b94d932573b0b03e4cf
https://doi.org/10.1016/j.ijpam.2021.03.002

المؤلفون: Bénédicte Demeer, Nicole Revencu, Raphael Helaers, Cica Gbaguidi, Stéphanie Dakpe, Geneviève François, Bernard Devauchelle, Bénédicte Bayet, Miikka Vikkula

المصدر: Genes, Vol 10, Iss 10, p 833 (2019)

مصطلحات موضوعية: discontinuous cleft, fgfr1, dlg1, wes (whole exome sequencing), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/10/10/833; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/e5045649fd004d5daaaf66c060fc2c3a

المؤلفون: Nadav Shoshany, Chen Weiner, Margarita Safir, Adi Einan-Lifshitz, Russell Pokroy, Ayala Kol, Shira Modai, Noam Shomron, Eran Pras

المصدر: Genes, Vol 10, Iss 10, p 825 (2019)

مصطلحات موضوعية: degeneration, genetics, macula, wes (whole-exome sequencing), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/10/10/825; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/1ceac0656b1341d48c8ecc6f4ac55559

المؤلفون: Chi Ma, Benjamin L. Green, Benjamin Ruf, Mayank Tandon, Laurence P. Diggs, John C. McVey, Simon Wabitsch, Bernd Heinrich, Tim F. Greten, Qianfei Zhang, Justin D. McCallen

المصدر: Cellular and Molecular Gastroenterology and Hepatology
Cellular and Molecular Gastroenterology and Hepatology, Vol 12, Iss 3, Pp 1166-1178 (2021)

مصطلحات موضوعية: 0301 basic medicine, MAPK/ERK pathway, ICI, immune checkpoint inhibitor, Programmed Cell Death 1 Receptor, IC50, median inhibitory concentration, RC799-869, medicine.disease_cause, WES, whole-exome sequencing, Cholangiocarcinoma, Mice, 0302 clinical medicine, iCCA, intrahepatic cholangiocarcinoma, Immune Checkpoint Inhibitors, Original Research, Trametinib, medicine.diagnostic_test, Gastroenterology, High-Throughput Nucleotide Sequencing, Drug Synergism, Diseases of the digestive system. Gastroenterology, Anti–PD-1 Monoclonal Antibody, Editorial, Female, 030211 gastroenterology & hepatology, KRAS, Immunotherapy, Combination therapy, Cell Survival, Pyridones, PD-L1, programmed cell death ligand 1, PBS, phosphate-buffered saline, IFNγ, interferon γ, Pyrimidinones, MHC-1, major histocompatibility complex, Flow cytometry, PD-1, programmed cell death protein 1, 03 medical and health sciences, Cell Line, Tumor, Exome Sequencing, medicine, Animals, Humans, Cell Proliferation, Mitogen-Activated Protein Kinase Kinases, Tumor microenvironment, Hepatology, Cell growth, business.industry, KRASwt, KRAS wild-type, Xenograft Model Antitumor Assays, 030104 developmental biology, Bile Ducts, Intrahepatic, Bile Duct Neoplasms, Cancer research, Intrahepatic Cholangiocarcinoma, business, CD8

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcfa0235fd2025edb0051c54423904e0
http://europepmc.org/articles/PMC8413239