Results 101 to 110 of about 24,543 (243)

Genetic Spectrum of Non‐PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort

Clinical Genetics, Volume 110, Issue 5, Page 527-537, November 2026.
Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova, Olga Shatokhina, Daria Guseva, Nina Demina, Aleksander Polyakov, Oхana Ryzkova   +5 more
wiley   +1 more source

Macroeconomic impacts of the reform of public services in Uruguay - A CGE analysis [PDF]

This paper investigates the macroeconomic impacts of the reform of public services in Uruguay. A computable general equilibrium (CGE) model is used to simulate different policy scenarios, analyzing the reforms of the regulatory framework of public ...
Gabriel Katz, Andrés Pereyra, Alvaro Forteza, María Inés Terra   +3 more
core  

Biallelic Truncating Variant in LRGUK Is Associated With Severe Multiple Morphological Abnormalities of the Sperm Flagella and Sperm Nuclear Defects in Humans

Clinical Genetics, Volume 110, Issue 5, Page 538-548, November 2026.
A homozygous truncating variant in LRGUK results in loss of the LRGUK protein and causes multiple morphological abnormalities of the flagella (MMAF), disrupted axonemal architecture, central pair defects, abnormal chromatin organization, and severe male infertility, establishing LRGUK as a novel human infertility gene.
Wiâme Mokkedem, Zeina Wehbe, Anne‐Laure Barbotin, Angèle Boursier, Célia Tebbakh, Nicolas Thierry‐Mieg, Marie Bidart, Antonella Migliaccio, Rosanna Chianese, Christophe Arnoult, Raoudha Zouari, Zine‐Eddine Kherraf, Pierre F. Ray, Guillaume Martinez, Charles Coutton   +14 more
wiley   +1 more source

Building and Linking a Microsimulation Model to a CGE Model : the South African Microsimulation Model [PDF]

This paper describes the project of building a micro-macro model for South Africa. The aim is to deal with the links between globalisation and poverty or inequality, explaining the effects of trade liberalisation on poverty and inequality. The main issue
Nicolas Hérault
core  

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border

Clinical Genetics, Volume 110, Issue 5, Page 627-636, November 2026.
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart, Michelle Gray, Roberta Sierra, Camille Maldonado, Daniel Brooks, Hongzheng Dai, Aaly Rahimtoola, Sandy Magallan, Sarah Rodriguez, Jose Gamez, Pattie Rosenlund, Surya N. Mulukutla, Alberto Allegre, Lori Berry, Brendan Lee, Daryl A. Scott, Blake Vuocolo, Seema R. Lalani   +17 more
wiley   +1 more source

Philippine rice and rural poverty: an impact analysis of market reform using CGE [PDF]

"This paper looks at how Philippine trade reform which consists of tariff reduction and elimination of quantitative restrictions (QR) on rice imports will affect poverty within two world trade scenarios: Doha and free world trade.
Cororaton, Caesar B.
core  

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1

Clinical Genetics, Volume 110, Issue 5, Page 574-583, November 2026.
Integrating trio‐based genomic sequencing with detailed clinical evaluation across seven French–Vietnamese heterotaxy cases alongside a review of 108 published patients reveals strong genotype–phenotype correlations. Variants in DNAH9, PKD1L1, MMP21, and GDF1 define a broad spectrum from isolated situs inversus to complex conotruncal heart defects and ...
Thi Bich Tuyen Ho, Alicia Coudert, Thi Thuy Hang Do, Thi Thanh Thuy Le, Marjolaine Gauthier, Charlotte Dubucs, Jeremie Mortreux, Pauline Monin, Nicolas Chatron, Françoise Devillard, Charles Coutton, Véronique Satre, Radu Harbuz, William Dufour, Louis Januel, Tristan Celse, Clara Paris, Auragen Consortium, Le Tuyet Mai Tran, Huu Tung Trinh, Pierre‐Simon Jouk, Ba Luu Truong, Thi Kim Nhi Nguyen, Julien Thevenon   +23 more
wiley   +1 more source

Volatility of world rice prices, import tariffs and poverty in Indonesia: a CGE-microsimulation analysis [PDF]

This study aims at measuring the impact of world price volatility and import tariffs on rice on poverty in Indonesia. Applying a Computable General Equilibrium-Microsimulation approach and the endogenous poverty line, this study found that the volatility
Teguh, Dartanto
core  

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum

Clinical Genetics, Volume 110, Issue 5, Page 605-615, November 2026.
Pathogenic PORCN variants are compatible with male survival in both mosaic and non‐mosaic states, expanding the FDH/PONGOS spectrum and improving diagnosis and genetic counseling. ABSTRACT Pathogenic variants in PORCN cause focal dermal hypoplasia (FDH/Goltz syndrome), an X‐linked dominant disorder historically considered lethal in males, with milder ...
Lucía Miranda‐Alcaraz, Simone Carbonera, Mónica Mora‐Gómez, Natalia Gallego‐Zazo, Inmaculada Guillén, Elena Padilla, Gaia Visani, Alessia Asaro, Valeria Vásquez‐Amell, Mario Cazalla, Manuel Rodríguez‐Canó, Cristina Silván, Pedro Arias, Juan Andrés Jiménez‐Estrada, Tomás Valle, Alejandro Cruz‐Utrilla, Pilar Escribano‐Subías, Nuria Ochoa Parra, María Jesús del Cerro Marín, Julián Nevado, Spanish PAH Consortium, Pablo Lapunzina, Fabio Sirchia, Jair Tenorio‐Castano   +23 more
wiley   +1 more source

Evaluation of the Biochemical, Colorimetric, and Microbiological Stability of Red Cabbage Anthocyanin Extracts for Application as Natural Indicators. [PDF]

Molecules
Huțuțui LM, Amariei S, Gâtlan AM.
europepmc   +1 more source