Results 51 to 60 of about 7,481 (302)

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

CMAS interaction with yttrium based systems: Towards a promising solution? [PDF]

, 2018
Anti-CMAS coatings are designed to protect thermal barrier coatings against degradations due to CMAS infiltration. They are dedicated to react as fast as possible with CMAS compounds in order to generate a new phase that will not let the CMAS ...
Ansart, Florence, Gomez, Philippe, Delon, Elodie, Malié, André, Duluard, Sandrine, Joulia, Aurélien   +5 more
core   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Expert Perspective: Toward Treat‐to‐Target Management in Adult Idiopathic Inflammatory Myopathies

Arthritis &Rheumatology, Accepted Article.
Treat‐to‐target (T2T) has transformed the management of several rheumatic diseases through predefined therapeutic goals, structured disease assessment, and timely treatment adjustment. Despite major advances in the understanding and treatment of idiopathic inflammatory myopathies (IIM), a formal T2T framework for adult IIM has not yet been established.
Shiri Keret, Nantakarn Pongtarakulpanit, Rohit Aggarwal   +2 more
wiley   +1 more source

Task shifting levonorgestrel implant insertion to community midwife assistants in Malawi: results from a non-inferiority evaluation

Contraception and Reproductive Medicine, 2018
Background In 2013, Malawi began task shifting long acting reversible contraception (LARC) insertion from Nurse Midwife Technicians (NMTs), who undergo 3 years of training, to Community Midwife Assistants (CMAs), who undergo 18 months of training ...
Dylane N. Davis, Clara Lemani, Nenani Kamtuwanje, Billy Phiri, Prisca Masepuka, Sally Kuchawo, Nivedita L. Bhushan, Jennifer H. Tang   +7 more
doaj   +1 more source

A ação ético-político-pedagógica dos conselheiros assistentes sociais no Conselho Municipal de Assistência Social de São José (CMAS/São José) [PDF]

, 2004
TCC (graduação) - Universidade Federal de Santa Catarina, Centro Sócio Econômico, Curso de Serviço Social.A centralidade da pesquisa que o presente trabalho irá sistematizar recai na investigação das possíveis co ltribuições do projeto profissional ...
Silva, Angela Cristina Ceschin
core  

Acoustic emission monitoring and damage mode discrimination of APS thermal barrier coatings under high temperature CMAS corrosion

, 2016
Molten calcium-magnesium-alumino-silicate (CMAS) corrosion is the most dangerous failure mode for thermal barrier coatings (TBCs). The real-time monitoring and mode discrimination of the corrosion failure process are desirable to understand the corrosion
Yang TT, Zhou, YC (reprint author), Xiangtan Univ, Sch Mat Sci & Engn, Key Lab Key Film Mat & Applicat Equipment Hunan P, Xiangtan 411105, Hunan, Peoples R China., Yang L, Wang NG, Yang, L, 魏悦广, Wu RT, Zhou YC   +7 more
core   +1 more source

Clinical and Genetic Factors Associated With Regression in Children With Autism Spectrum Disorders

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with complex genetic and environmental underpinnings. A clinically significant subset of children with ASD experience developmental regression (regASD), characterized by the acute loss of previously acquired skills. The mechanisms, predictors, and molecular basis of
Anna Maruani, Emma Delclaud, Paul Bruzeau, Richard Delorme, Anne‐Claude Tabet, Valérie Vantalon, Jonathan Levy, Pierre Ellul   +7 more
wiley   +1 more source

Study on the Effect of CMAS Components on the Corrosion Behavior of Yb₂Si₂O₇ Environmental Barrier Coatings [PDF]

Cailiao Baohu
Environmental barrier coatings (EBCs) are expected to be applied to the hot-end components of new generation of highthrust-toweight ratio aircraft engines.Rare-earth pyrosilicates， especially Yb2 Si2 O7， have been considered excellent EBCs ...
ZHANG Le, ZHONG Xin, WANG Yongsheng, NIU Yaran, LYU Mingda
doaj   +1 more source

Assistência Social em Blumenau - SC: reflexões sobre o processo de descentralização [PDF]

, 2012
Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro Sócio-Econômico, Programa de Pós-Graduação em Serviço Social, Florianópolis, 2004A descentralização abrange diversos aspectos: o arranjo institucional, o fiscal, o remanejamento de ...
Angioni, Marilda
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