نتائج البحث - "variant type"

المصدر: Bayley, J P, Bausch, B, Jansen, J C, Hensen, E F, van der Tuin, K, Corssmit, E P, Devilee, P & Neumann, H P 2023, ' SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma ', Journal of Medical Genetics, vol. 60, no. 1, pp. 25-32 . https://doi.org/10.1136/jmedgenet-2020-107656Test
Journal of Medical Genetics, 60(1), 25-32. BMJ Publishing Group
Journal of Medical Genetics. BMJ PUBLISHING GROUP
Journal of Medical Genetics

مصطلحات موضوعية: Oncology, medicine.medical_specialty, phenotype, SDHB, Variant type, business.industry, genotype, adrenal gland diseases, medicine.disease, Malignancy, Pheochromocytoma, Paraganglioma, Internal medicine, Genetics, medicine, Missense mutation, SDHD, endocrine gland neoplasms, Age of onset, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80e13f562bc6729aeaed3f77a1fed026Test
http://www.scopus.com/inward/record.url?scp=85144637045&partnerID=8YFLogxKTest

5

دورية أكاديمية

Investigation of genotype–phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing

المؤلفون: Neslihan Duzkale (11196111), Umut Arslan (5395007)

مصطلحات موضوعية: Medicine, Cell Biology, Genetics, Molecular Biology, Neuroscience, Cancer, Biological Sciences not elsewhere classified, Inherited retinal dystrophies, next-generation sequencing, variant type, gene, inheritance pattern

العلاقة: https://figshare.com/articles/journal_contribution/Investigation_of_genotype_phenotype_relationship_in_Turkish_patients_with_inherited_retinal_disease_by_next_generation_sequencing/15066210Test

الإتاحة: https://doi.org/10.6084/m9.figshare.15066210.v1Test

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6

دورية أكاديمية

VARIATION AS INHERENT FEATURE OF DIPLOMATIC DISCOURSE: A CASE STUDY OF ITS INVARIANT, VARIANTS AND THE PROCESS OF VARYING ; ВАРІАТИВНІСТЬ ЯК НЕВІД’ЄМН0-ПРИТАМАННА РИСА ДИПЛОМАТИЧНОГО ДИСКУРСУ: ДОСЛІДЖЕННЯ ІНВАРІАНТІВ, ВАРІАНТІВ І ПРОЦЕСУ ВАРІЮВАННЯ

المؤلفون: PONOMARENKO, Olga

المصدر: Astraea; Том 1, № 2; 53-87 ; 2708-3098

مصطلحات موضوعية: variation, invariant, variant (type), change, constant, diplomatic discourse, варіантність, варіативність, ін/варіант (тип), зміна, константа, дипломатичний дискурс

وصف الملف: application/pdf

العلاقة: http://journals.hnpu.edu.ua/index.php/astraea/article/view/3411/3505Test; http://journals.hnpu.edu.ua/index.php/astraea/article/view/3411Test

الإتاحة: https://doi.org/10.34142/astraea.2020.1.2.04Test
http://journals.hnpu.edu.ua/index.php/astraea/article/view/3411Test

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7

دورية أكاديمية

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: mismatch repair genes, splicing aberrations, variant interpretation and classification, variant type, Lynch syndrome, mRNA splicing, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fgene.2020.00798/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/9cc3036b8517473a900b9588e8069c13Test

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النص الكامل

8

دورية أكاديمية

Heightened risk of early vocal fold motion impairment onset and dysphagia in the parkinsonian variant of multiple system atrophy: a comparative study

المؤلفون: Kaoru Tsuchiya, Rumi Ueha, Sayaka Suzuki, Takao Goto, Taku Sato, Takaharu Nito, Tatsuya Yamasoba

المصدر: Clinical Parkinsonism & Related Disorders, Vol 3, Iss , Pp 100037- (2020)

مصطلحات موضوعية: Multiple system atrophy, Parkinsonian variant type, Vocal fold motion impairment, Sleep apnea, Dysphagia, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2590112520300050Test; https://doaj.org/toc/2590-1125Test

الوصول الحر: https://doaj.org/article/143518ec375746a19670102134b72b1bTest

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النص الكامل

9

Retinitis pigmentosa hastalarının yeni nesil dizileme analizi ile göz ve klinik bulgularının değerlendirilmesi ; Next-generation sequencing analysis of retinitis pigmentosa patients and evaluation of ocular and clinical findings

المؤلفون: Erdem, Duygu

المساهمون: Doğanay, Selim, Bursa Uludağ Üniversitesi/Tıp Fakültesi/Göz Hastalıkları Anabilim Dalı.

مصطلحات موضوعية: Retinitis pigmentosa, Yeni nesil dizileme, Kalıtım paterni, Varyant tipi, Genotip fenotip korelasyonu, Next-generation sequencing, Inheritance pattern, Variant type, Genotype-phenotype correlation

وصف الملف: V, 103 sayfa; application/pdf

العلاقة: Tez; Erdem, D. (2023). Retinitis pigmentosa hastalarının yeni nesil dizileme analizi ile göz ve klinik bulgularının değerlendirilmesi. Yayınlanmamış tıpta uzmanlık tezi. Bursa Uludağ Üniversitesi Tıp Fakültesi.; http://hdl.handle.net/11452/34013Test

الإتاحة: http://hdl.handle.net/11452/34013Test

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10

دورية أكاديمية

Session types revisited

المؤلفون: Dardha, Ornela, Giachino, Elena, Sangiorgi, Davide

المساهمون: Dardha, Ornela, Giachino, Elena, Sangiorgi, Davide

مصطلحات موضوعية: Encoding, Linear type, Session type, Variant type, pi-calculu, type systems

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000412282400021; volume:256; firstpage:253; lastpage:286; numberofpages:34; journal:INFORMATION AND COMPUTATION; http://hdl.handle.net/11585/619246Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85026260459; https://www.sciencedirect.com/science/article/pii/S0890540117300962Test

الإتاحة: https://doi.org/10.1016/j.ic.2017.06.002Test
http://hdl.handle.net/11585/619246Test
https://www.sciencedirect.com/science/article/pii/S0890540117300962Test

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