Results 151 to 160 of about 5,709,684 (288)

NOMENCLATURE CHANGES IN THE ALASKAN FLORA

, 1968
(Uploaded by Plazi from the Biodiversity Heritage Library) No abstract provided.
openaire   +2 more sources

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger, Periyasamy Radhakrishnan, Suma Balan, Anand P. Rao, Prajna Udupa, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Sanket Limaye, Huzail Gani Shaikh, Rohit Naik, Mahesh Janarthanan, Sudharshan Sridharan, Vishal Sondhi, Sheela Nampoothiri, Hitesh Shah, Sabrinath Mahadevan, Mahabaleshwar Mamadapur, Devang Pandya, Katta Mohan Girisha, Abhay Shivpuri, Amita Moirangthem, Jyothi Raghuram, Gandham Sri Lakshmi Bhavani, Sachin Jeevanagi, Girish Subramaniam, Amita Aggarwal, Anju Shukla, Dhanya Lakshmi Narayanan   +28 more
wiley   +1 more source

A Report of the Intergovernmental Panel on Climate Change

, 2015
This report distills and integrates the findings of the three Working Group contributions to the Fifth Assessment Report (AR5) of the Intergovernmental Panel on Climate Change (IPCC), the most comprehensive assessment of climate change undertaken thus ...
Intergovernmental Panel on Climate Change
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

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   +2 more sources

Global Climate Change Impacts in the United States [Brochure]

, 2009
The report highlighted in this brochure summarizes the science of climate change and the impacts of climate change on the United State, now and in the ...
U.S. Global Change Research Program
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

Nomenclatural changes in Viola (Violaceae)

, 1992
(Uploaded by Plazi from the Biodiversity Heritage Library) No abstract provided.
openaire   +1 more source

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

Judicial Opinions 133 and 134. [PDF]

Int J Syst Evol Microbiol
Arahal DR, Bull CT, Christensen H, Christensen H, Chuvochina M, Dunlap C, Göker M, Montero Calasanz MDC, Skye VA, Vandamme P, Ventosa A, Ventura S, Young P.   +12 more
europepmc   +1 more source