Results 101 to 110 of about 1,632,613 (263)

Nomenclatural changes in Liparis-complex [Malaxidinae, Epidendroideae] [PDF]

, 2008
Explanation of taxonomic and nomenclatural problems of few taxa of Liparis sensu lato are compiled. Taxonomic status of Disticholiparis is confirmed.
Szlachetko, D L, Margonska, H.B., Kulak, M.   +2 more
core  

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

Research, Analysis and Insight into National Standards (RAINS) Project Final Report: National Standards and the Damage Done [PDF]

, 2013
This is the final report of the Research Analysis and Insight into National Standards (RAINS) project, a three-year study of the enactment of the National Standards policy in six diverse primary and intermediate schools.
Thrupp, Martin, White, Michelle
core  

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik, Davut Pehlivan, Cary Fu, Antonio F. Martinez‐Monseny, Mar O'Callaghan, Judith Armstrong, Sarika U. Peters, Steven T. Lee, Timothy J. Feyma, Paola Mian, Christine Coquery   +10 more
wiley   +1 more source

Control of Sequences and H‐Bonding Motifs in IEM‐Derived Copolymers Enables Mechanical Tunability, Self‐Healing, and Clusterization‐Triggered Emission

Angewandte Chemie, EarlyView.
In IEM‐derived gradient copolymers, the structure of H‐bonding motifs and chain sequence distribution jointly govern mechanical performance, self‐healing, and clusterization‐triggered emission (CTE) behavior. Quadruple H‐bonding motifs in a gradient architecture promote nanoscale clustering that simultaneously tunes modulus across two orders of ...
Hanshu Wu, Abhrojyoti Mazumder, Jirameth Tarnsangpradit, Jihyun Park, Michael R. Bockstaller, Xiaoyue Wang, Krzysztof Matyjaszewski   +6 more
wiley   +2 more sources

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

Nomenclatural correction in Cryptanthus Otto & A. Dietrich. (Bromeliaceae - Bromelioideae)

Nomenclatural correction in Cryptanthus Otto & A. Dietrich. (Bromeliaceae - Bromelioideae). A nomenclatural correction of the author name of Cryptanthus zonatus, an endemic species of Northeastern Brazil, is provided.
Marccus Alves, Rossella Marcucci
core   +1 more source

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy, Pascal Joset, H. E. Veenstra‐Knol, Nicole Corsten‐Janssen, Tuula Rinne, Irene Valenzuela, Marta Codina‐Solà, Carlota Rodó, Marjolaine Willems, Constance Wells, Renaud Touraine, Maayke de Koning, Gijs Santen, Iris Hollink, André Travessa, Alessandro Mauro Spinelli, Paolo Peruzzo, Moneef Shoukier, Roland Axt‐Fliedner, Thomas Menter, Gwendolin Manegold‐Brauer, Isabel Filges   +21 more
wiley   +1 more source

Regeneration‐Optimized Chemisorbents: Evaluating Hybrid Coordination Networks for Atmospheric Water Harvesting

Angewandte Chemie, EarlyView.
Atmospheric water harvesting (AWH) under arid conditions requires desiccants that load water below 30% RH and regenerate below 60°C, a performance regime traditionally limited to physisorbents. Here, we show that the inherent hydrolytic instability of M′FSIX‐25‐M coordination networks enable regeneration‐optimized chemisorbents (ROCs) with projected ...
Xiang‐Jing Kong, Asif Raza, Lilia Croitor, Andrey Bezrukov, Xia Li, Angela Shipman, William Morris, Carlos J. Solanilla‐Salinas, Adam Hogan, Brian Space, Volodymyr Bon, Stefan Kaskel, Soumya Mukherjee, Alan C. Eaby, Tao He, Michael J. Zaworotko   +15 more
wiley   +1 more source