Results 131 to 140 of about 46,941 (302)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

π‐Extended COUPY Fluorophores for Targeted Near‐Infrared Fluorescence and Lifetime Imaging in Live Cells

Angewandte Chemie, EarlyView.
π‐Extended COUPY dyes, obtained by vinylogation of coumarin‐based COUPY scaffolds, shift absorption, and emission deep into the NIR region while preserving compactness and synthetic accessibility. These bright, photostable dyes enable live‐cell imaging, FLIM, and site‐specific peptide conjugation, offering a modular platform for targeted bioimaging and
Diego Abad‐Montero, Manel Bosch, Rodrigo Garcés‐Castellanos, Michael Q. Schottenhamel, Sergio Pedraza‐Arevalo, Alejandro Ibáñez‐Costa, Justo P. Castaño, Tania García‐Becerra, Elena Rebollo, Marta E. Alberto, Antonio Francés‐Monerris, Vicente Marchán   +11 more
wiley   +2 more sources

Genetic Risk and High Burden of Depression and Suicide in the Maya‐Mestizo Population of Yucatán, México

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Major depression and suicide are critical public health concerns, particularly in underrepresented populations with unique genetic and sociocultural contexts. The Maya‐mestizo population presents the highest suicide rates in the country but remains understudied in psychiatric genetics. This study evaluated the association between three genetic
Marta Menjivar, Erandi Bravo, Margarita Rivera‐Balancan, Barbara Itzel Pena Espinoza   +3 more
wiley   +1 more source

Analysis of the impact of harmonic interference circuit Costas

Научный вестник МГТУ ГА, 2016
The analysis of influence of harmonic interference on the phase error in the Costas circuit is carried out. Differential equations of the circuit are obtained.
B. I. Shakhtarin, Yu. A. Sidorkina, T. G. Aslanov   +2 more
doaj  

Cancer in Costa Rica.

Cancer research, 1989
UCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias de la Salud::Instituto de Investigaciones en Salud (INISA)
Sierra Ramos, Rafaela, Maxwell Parkin, Donald, Muñoz Leiva, Georgina   +2 more
openaire   +2 more sources

Costa Rica – “Bogate Wybrzeże” = Costa Rica –„Rich Coast”

Journal of Education, Health and Sport, 2016
Napierała Marek. Costa Rica – “Bogate Wybrzeże” = Costa Rica – „Rich Coast”. Journal of Education, Health and Sport. 2016;6(2):111-121. eISSN 2391-8306. DOI http://dx.doi.org/10.5281/zenodo.46249 http://ojs.ukw.edu.pl/index.php/johs/article/view/3392 https://pbn.nauka.gov.pl/works/715180 The journal has had 7 points in Ministry of Science and ...
openaire   +4 more sources

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Costas Nachleben

, 2016
Eschkötter D. Costas Nachleben. In: Hagener M, Kaiser T, eds. Pedro Costa. Film-Konzepte. Vol 41.
Eschkötter, Daniel, Kaiser, Tina, Hagener, Malte   +2 more
core  

Invalidez por dor nas costas entre segurados da Previdência Social do Brasil

Revista de Saúde Pública
OBJETIVO: Descrever as aposentadorias por invalidez decorrente de dor nas costas. MÉTODOS: Estudo descritivo com dados do Sistema Único de Informações de Benefícios e dos Anuários Estatísticos da Previdência Social em 2007.
Ney Meziat Filho, Gulnar Azevedo e Silva
doaj  

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source