المؤلفون: Tan, Queenie, Cope, Heidi, Spillmann, Rebecca, Stong, Nicholas, Jiang, Yong-Hui, McDonald, Marie, Rothman, Jennifer, Butler, Megan, Frush, Donald, Lachman, Ralph, Lee, Brendan, Bacino, Carlos, Bonner, Melanie, McCall, Chad, Pendse, Avani, Walley, Nicole, Shashi, Vandana, Pena, Loren

المصدر: Cold Spring Harbor Molecular Case Studies. 4(5)

مصطلحات موضوعية: congenital thrombocytopenia, exocrine pancreatic insufficiency, hepatic bridging fibrosis, hypercalciuria, intellectual disability, mild, portal fibrosis, short stature, spondylometaphyseal dysplasia, Adolescent, Bone Marrow Diseases, Exocrine Pancreatic Insufficiency, Female, GTP Phosphohydrolases, Genetic Variation, Humans, Lipomatosis, Mutation, Osteochondrodysplasias, Peptide Elongation Factors, Phenotype, Proteins, Ribonucleoprotein, U5 Small Nuclear, Shwachman-Diamond Syndrome, Exome Sequencing

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/60h825g3

المؤلفون: Maida, Deanna^Aff3

المساهمون: Kamat, Deepak M., editor^Aff1, Frei-Jones, Melissa, editor^Aff2

المصدر: Benign Hematologic Disorders in Children : A Clinical Guide. :135-151

المؤلفون: Giuseppe Lassandro, Valentina Palladino, Michela Faleschini, Angelica Barone, Gianluca Boscarol, Simone Cesaro, Elena Chiocca, Piero Farruggia, Fiorina Giona, Chiara Gorio, Angela Maggio, Maddalena Marinoni, Antonio Marzollo, Giuseppe Palumbo, Giovanna Russo, Paola Saracco, Marco Spinelli, Federico Verzegnassi, Francesca Morga, Anna Savoia, Paola Giordano

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: inherited thrombocytopenia, platelet, bleeding diseases/disorders, children, congenital thrombocytopenia, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.967417/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/134bacc0158c4a0281db481c045b7b63

المؤلفون: Rebecca Carter, Anna-Kaisa Niemi

المصدر: Platelets, Vol 33, Iss 4, Pp 649-651 (2022)

مصطلحات موضوعية: congenital thrombocytopenia, nait, noonan syndrome, Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0953-7104; https://doaj.org/toc/1369-1635

URL الوصول: https://doaj.org/article/bcbd079d17434d86808daa87af4bead2

المؤلفون: Xin Li, Ying Li, Min Lei, Jing Tian, Zuocheng Yang, Shoujin Kuang, Yanjuan Tan, Tao Bo

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-4 (2020)

مصطلحات موضوعية: Congenital thrombocytopenia, UDP-N-acetyl-glucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), Sialic acid, Neonates, Twins, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-020-01163-2; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/4aaa8f001bf74caca7f085cd5d4b1625

المؤلفون: Braidy, Hani F.^Aff3

المساهمون: Szumita, Richard P., editor^Aff1, Szumita, Paul M., editor^Aff2

المصدر: Hemostasis in Dentistry. :39-52

المؤلفون: Li, Xin^{Aff1, Aff2}, Li, Ying, Lei, Min, Tian, Jing, Yang, Zuocheng, Kuang, Shoujin, Tan, Yanjuan, Bo, Tao^Aff1

المصدر: BMC Medical Genetics. 21(1)

المؤلفون: Ilaria Amodeo, Genny Raffaeli, Federica Vianello, Giacomo Cavallaro, Valeria Cortesi, Francesca Manzoni, Giacomo S. Amelio, Silvia Gulden, Fabio Mosca, Stefano Ghirardello

المصدر: Children, Vol 8, Iss 10, p 878 (2021)

مصطلحات موضوعية: May–Hegglin anomaly, MYH9-related disorders, congenital thrombocytopenia, macrothrombocytopenia, viscoelastic test, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9067/8/10/878; https://doaj.org/toc/2227-9067

URL الوصول: https://doaj.org/article/e6925c5aadad4573a3066923f992f4ca

المؤلفون: Jessica M. Schmit, Daniel J. Turner, Robert A. Hromas, John R. Wingard, Randy A. Brown, Ying Li, Marilyn M. Li, William B. Slayton, Christopher R. Cogle

المصدر: Leukemia Research Reports, Vol 4, Iss 1, Pp 24-27 (2015)

مصطلحات موضوعية: Congenital thrombocytopenia, Familial platelet disorder, Myelodysplastic syndromes, RUNX1, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213048915000035; https://doaj.org/toc/2213-0489

URL الوصول: https://doaj.org/article/e7e90398f7fd46e3850b777a48c9ca9f

المؤلفون: Min Lei, Shoujin Kuang, Yanjuan Tan, Tao Bo, Zuocheng Yang, Li Xin, Ying Li, Jing Tian

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-4 (2020)
BMC Medical Genetics

مصطلحات موضوعية: 0301 basic medicine, Models, Molecular, medicine.medical_specialty, Pediatrics, Heterozygote, lcsh:Internal medicine, lcsh:QH426-470, Twins, Gene Expression, Case Report, Gene mutation, Compound heterozygosity, Neonatal Thrombocytopenia, Protein Structure, Secondary, 03 medical and health sciences, 0302 clinical medicine, Multienzyme Complexes, Intensive care, Intensive Care Units, Neonatal, hemic and lymphatic diseases, Genetics, Medicine, Humans, lcsh:RC31-1245, Genetics (clinical), Base Sequence, business.industry, Cytogenetics, Congenital thrombocytopenia, Infant, Neonates, Human genetics, Sialic acid, Thrombocytopenia, Neonatal Alloimmune, lcsh:Genetics, 030104 developmental biology, UDP-N-acetyl-glucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), Mutation, Etiology, Female, business, 030217 neurology & neurosurgery, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7341faca4ba93e0087271ca23e3ea4d
http://link.springer.com/article/10.1186/s12881-020-01163-2