Results 191 to 200 of about 52,839 (293)

Delineating the <i>CTBP1</i>-Related Phenotypic Spectrum: A Review of HADDTS and Atypical Variants. [PDF]

Int J Mol Sci
Akdaş EY, Lu D, Zhang L, Cheng M, Bashiri Dezfouli A, Wollenberg B.   +5 more
europepmc   +1 more source

Muscular Hypotonia with Hypoglycæmia [PDF]

Proceedings of the Royal Society of Medicine, 1928
openaire   +2 more sources

Anxiety disorder and anxiolytic pharmacotherapy during pregnancy: The impact on pregnancy outcomes

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective This study determines the contributions of anxiety disorder and anxiolytic pharmacotherapy on perinatal outcomes and examines prescribing trends during pregnancy. Methods A retrospective cohort study was conducted at a single tertiary medical center between 2013 and 2024.
Sher Goaz Melet, Chagit Kliger, Daniel Gabbai, Danna Englender, Yariv Yogev, Omri Dominsky   +5 more
wiley   +1 more source

Hematological and Genotoxic Effects of Subchronic Oral Exposure to a Mancozeb‐Based Fungicide in Female Mice

Journal of Applied Toxicology, EarlyView.
ABSTRACT The extensive use of pesticides in modern agriculture has raised increasing concerns regarding the potential biological effects of repeated exposure to pesticide residues and commercial formulations. Mancozeb is a widely used ethylene‐bis‐dithiocarbamate fungicide; however, information on its hematological and genotoxic effects following ...
Matheus Henrique Barcelos Figueiredo, Natanael Vaz Crisóstomo Peixoto, Paula Soares Nakamura, Cecília Müller Wodzik, Lucas Ribeiro Maia dos Santos, Fábio Vieira de Andrade Borges, Lara Cândida de Sousa Machado, Jéssica Gardone Vitório, Renata Mazaro e Costa, Mônica Rodrigues Ferreira Machado, Walter Dias Júnior   +10 more
wiley   +1 more source

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat

Journal of Clinical Laboratory Analysis, EarlyView.
Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Ma. Guadalupe Domínguez‐Quezada, Horacio Rivera, Luis E. Figuera, Patricio Barros‐Núñez, José Luis Castrillo, Carlos Córdova‐Fletes, Thania Alejandra Aguayo‐Orozco   +6 more
wiley   +1 more source

A Clinical Genetics-Driven Dual Diagnosis of Prader-Willi Syndrome Due to Mosaic Maternal UPD(15) and <i>NOTCH3</i>-Related CADASIL. [PDF]

Genes (Basel)
Bogliardi FM, D'Ambrosio P, Quattromini G, Di Mario G, Pomponi MG, Miele L, Vergani E, Zampino G, Liguori A, Zollino M, Crinò A.   +10 more
europepmc   +1 more source

Uterine hypotonia. [PDF]

BMJ, 1971
openaire   +2 more sources

Deep Learning‐Assisted Classification of Urinary Red Blood Cell Morphology for Glomerular Hematuria Screening: A Pilot Study

Journal of Clinical Laboratory Analysis, EarlyView.
This retrospective pilot study developed a YOLOv5l‐based deep learning system to detect and classify urinary red blood cells as isomorphic, dysmorphic, or unknown in urine sediment images. The model achieved a precision of 0.84, recall of 0.69, and F1‐score of 0.76 for dysmorphic RBCs, while sample‐level morphology scoring showed preliminary ...
Yih‐Lon Lin, Jung‐Sheng Chen, Ya‐Fan Chuang, Siang‐Ru Huang, Chien‐Sen Liao   +4 more
wiley   +1 more source

Rare Genetic Diseases with Founder Effect in Roma Children. [PDF]

Life (Basel)
Drobňaková S, Andrejková M, Šaligová J, Potočňáková Ľ, Vargová V, Kuchta M, Beňačka R, Barkai L.   +7 more
europepmc   +1 more source

Vitamin B12 deficiency in an infant secondary to nutritional deficiency and an inadequate maternal diet

JPGN Reports, EarlyView.
ABSTRACT Vitamin B12 (cobalamin, Cbl) is an essential micronutrient for DNA synthesis and neurological development. Its deficiency in infants, although infrequent in developed countries, can cause megaloblastic anemia, psychomotor delay, and neurological damage that may become irreversible if not treated early.
Sandra Sala‐Lluch, Nerea Mesas‐Vila, Susana Ferrando‐Monleón, Ana Barrés‐Fernández, Cristina Villar‐Vera, José Vicente Arcos‐Machancoses   +5 more
wiley   +1 more source