Results 91 to 100 of about 350,440 (325)

Characterization of an Inherited Neurologic Syndrome in Toyger Cats with Forebrain Commissural Malformations, Ventriculomegaly and Interhemispheric Cysts. [PDF]

, 2016
BackgroundIn children, frequent congenital malformations with concomitant agenesis of the corpus callosum are diagnosed by neuroimaging in association with other cerebral malformations, including interhemispheric cysts and ventriculomegaly.
Creighton, EK, Keating, MK, Lyons, LA, Sisó, S, Sturges, BK, Wisner, ER   +5 more
core  

Novel associations in disorders of sex development: findings from the I-DSD registry [PDF]

, 2013
Context: The focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development. In addition, the molecular etiology remains unclear in the majority of cases.<p></p> Objective: To report ...
Ahmed, Ahmed, Ahmed, Ahmed, Akre, Antonio Balsamo, Bangsbøll, Bebermeier, Berger, De Groote, Dolk, Duguid, Feyza Darendeliler, Flück, Gottlieb, Guerrier, Hiort, Hughes, Hughes, Hughes, Ieuan Hughes, Jillian Bryce, Jipu Jiang, Kathryn Cox, Kreidberg, Köhler, Laura Audi, Lidka Lisa, Martina Rodie, Martine Cools, Melià, Miles, Mona Alkhawari, Mona Ellaithi, Morcel, Nabhan, Nils Krone, Nowaczyk, Olaf Hiort, Olle Soder, Ono, Pang, Paul-Martin Holterhus, Peter Wieacker, Porter, Richard Sinnott, S. Faisal Ahmed, Silvano Bertelloni, Stenvert Drop, Sun, Telvi, Thyen, Tokgoz, Tosson, Tulay Guran, Wiebke Arlt, Yang, Yinon, Yves Morel   +58 more
core   +3 more sources

Congenital Abnormalities in Infancy [PDF]

Archives of Pediatrics & Adolescent Medicine, 1964
It is a pleasure to greet the second edition of Congenital Abnormalities in Infancy edited by A.P. Norman. I am so impressed by the quality and usefulness of this book that I recommend it for the basic library of every pediatrician; in fact, the section on "Abnormalities of the Central Nervous System" by K.M. Laurence and R.
openaire   +1 more source

Fluorinated Carnitine Derivatives as Tools to Visualise Carnitine Transport and Metabolism

Advanced Science, EarlyView.
Fluorinated carnitines, fluoromethyl carnitine (FMC) and [18F]fluoromethyl carnitine ([18F]FMC), are synthesised and established as powerful probes to interrogate carnitine biology. The multimodal detection facilitated by fluorine labelling, including 19F NMR, mass spectrometry, and positron emission tomography imaging, allowed for visualisation of ...
Richard S. Edwards, Ella‐May Hards, Sofia N. dos Santos, Hannah E. Greenwood, Madeleine E. George, Andrea Emanuelli, Muhammet Tanc, Thomas R. Eykyn, Timothy H. Witney   +8 more
wiley   +1 more source

Changes In angulation and phalangeal length of fingers and thumbs following surgical treatment for congenital clinodactyly [PDF]

, 2016
INTRODUCTION: Congenital clinodactyly is a condition characterized by the deviation of a digit or digits in the coronal plane. Angulation is often due to the presence of a delta phalanx.
Gordon, Alanna Alexandra
core   +1 more source

Proteomic Profiling of Hypoplastic Lungs Suggests an Underlying Inflammatory Response in the Pathogenesis of Abnormal Lung Development in Congenital Diaphragmatic Hernia [PDF]

, 2022
Richard Wagner, Paula Lieckfeldt, Hadeesha Piyadasa, Moritz Markel, Jan Riedel, Camelia Stefanovici, Nicole Peukert, Daywin Patel, Gabrielle Derraugh, Suyin A. Lum Min, Jan-Hendrik Gosemann, Jan Deprest, Christopher D. Pascoe, Andrew Tse, Martin Lacher, Neeloffer Mookherjee, Richard Keijzer   +16 more
openalex   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

Esketamine/Ketamine: Dual‐Action Mechanisms and Clinical Prospects beyond Anesthesia in Psychiatry, Immunology, and Oncology

Advanced Science, EarlyView.
Esketamine and ketamine are widely used for perioperative analgesia and anesthesia. Despite their established roles in analgesia, sedation, and anesthesia, as well as emerging antidepressant, anti‐tumor, and anti‐inflammatory effects, their clinical use is limited due to side effects and addiction potential.
Yinxin Wang, Jiangang Xu, Xinyu Zhou, Lu Che, Minghan Qiu, Yang Liu, Ming Gao, Zhen Yang   +7 more
wiley   +1 more source

Determining the Health Problems of Alaska Military Youth Academy Participants [PDF]

, 2014
Alaska Military Youth Academy is an accredited residential high school program that utilizes a quasi-military approach to teach life skills to at-risk youth.
Doughty, Mark W.
core  

Burden of digestive congenital anomalies among children aged 0–14 years in 204 countries and territories, 1990–2021: results from the Global Burden of Disease Study 2021

BMJ Open
Objectives We aim to delineate the digestive congenital abnormalities burden in children under 14 years old between 1990 and 2021.Design We implemented data from the Global Burden of Disease (GBD) 2021 database to evaluate digestive congenital ...
Jie Luo, Xi Luo, Jun Du, Jinhua Zhao, Deqin Lu, Huajian Gu   +5 more
doaj   +1 more source