Results 201 to 210 of about 162,110 (330)

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

The implementation of whole-genome sequencing for Mycobacterium tuberculosis in Vietnam

IJTLD Open
D.T. Huong, T.M. Walker, D.T. Ha, K.T.T. Ngoc, V.N. Trung, L.T. Nam, P.T.T. Ngoc, L.T. Nguyet, N.T. Thanh, N.H. Minh, N.K. Cuong, N.V. Khiem, H.V.T. Ngoc, T.T.T. Bich, H.N. Hong, P.P. Trieu, L.K. Lan, K. Lan, N.N. Hue, N.T.L. Huong, T.L.T.N. Thao, N.L. Quang, T.D.D. Anh, D.W. Crook, G.E. Thwaites, N.T.T. Thuong, N.B. Hoa, D.V. Luong, N.V. Hung   +28 more
doaj   +1 more source

Phenotypic drug resistance and genome sequencing based identified mutations linked to resistance in Mycobacterium tuberculosis isolated from extrapulmonary clinical specimens. [PDF]

Sci Rep
Mollalign H, Alemayehu DH, Melaku K, Ayele A, Chala D, Diriba G, Yenew B, Getahun M, Adnew B, Moga S, Collins JM, Ghodousi A, Beyene D, Bobosha K, Wassie L.   +14 more
europepmc   +1 more source

The Light of Imperfection: Retrieving the Generative Self from the Rational Judgment Machine ー A WGS Ontology of Generativity, Resonance, and Dignity

Kazunori Ohumi
openalex   +1 more source

WG II & WG III AR6 SPM Drafting Meeting and WG I Approval Session

WG II SPM Drafting Meeting 222021WG III SPM Drafting Meeting 222021WG I AR6 AcceptanceAdoptionApproval Session ...
openaire   +1 more source

MT_22: Architecture & Urbanism WG

, 2022
openaire   +2 more sources

Exploring the Impact of RNU4‐2 Defects on Neurodevelopmental Disorders in a Korean Population

Clinical Genetics, EarlyView.
Among 15 450 Korean individuals, noncoding RNU4‐2 variants, primarily the recurrent de novo n.64_65insT, make up 0.72% of neurodevelopmental disorders. Modeling and RNA‐seq suggest U4/U6 disruption and abnormal 5′ splice‐site selection, supporting routine use of WGS analysis for reanalyzing unresolved cases. ABSTRACT Neurodevelopmental disorders (NDDs)
Juhyeon Hong, Seungbok Lee, Soo Yeon Kim, Taekeun Kim, Woong‐Hee Shin, Sesong Jang, Ji‐Hwan Park, Dongmin Jang, Gunwoo Park, Jong Ho Cha, Jae So Cho, Anna Cho, Hunmin Kim, Hyewon Woo, Jon Soo Kim, Byung Chan Lim, Ji Eun Lee, Myungshin Kim, Chong Kun Cheon, Jungmin Choi, Jong‐Hee Chae   +20 more
wiley   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, EarlyView.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

Enhancing HT-WGS catalyst performance with stable monovalent copper species via electron supply from defect-induced MgO [PDF]

Min-Jae Kim, I-Jeong Jeon, Yong Jun Kim, Yujian Xia, Won-Jun Jang, Kyubock Lee, Jinghua Guo, Jae‐Oh Shim   +7 more
openalex   +1 more source

Rapid drug resistance prediction in positive <i>Mycobacterium tuberculosis</i> clinical samples using an extensive targeted next-generation sequencing panel. [PDF]

Emerg Microbes Infect
Rosendal E, Isidro J, Carneiro S, Gomes JP, Macedo R.   +4 more
europepmc   +1 more source