Results 191 to 200 of about 71,429 (285)

The concept of folic acid supplementation and its role in prevention of neural tube defect among pregnant women: PRISMA. [PDF]

Medicine (Baltimore)
Seyoum Tola F.
europepmc   +1 more source

Artificial Intelligence in Autonomous Mobile Robot Navigation: From Classical Approaches to Intelligent Adaptation

Advanced Intelligent Systems, EarlyView.
Artificial intelligence (AI) is reshaping autonomous mobile robot navigation beyond classical pipelines. This review analyzes how AI techniques are integrated into core navigation tasks, including path planning and control, localization and mapping, perception, and context‐aware decision‐making. Learning‐based, probabilistic, and soft‐computing methods
Giovanna Guaragnella, Angelo Cardellicchio, Cosimo Patruno, Massimiliano Nitti, Nicola Pedrocchi, Vito Renò   +5 more
wiley   +1 more source

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Relative Prevalence and Outcome of Fetal Neural Tube Defect in a Developing Country. [PDF]

J Obstet Gynaecol India, 2020
Kumar M, Hasija A, Garg N, Mishra R, Chaudhary SCR.   +4 more
europepmc   +1 more source

Knowledge, attitude and practice of physicians regarding periconceptional folic acid for women at low risk of a neural tube defect affected pregnancy. [PDF]

Prev Med Rep, 2021
Mida LA, Della Zazzera V, Fontaine-Bisson B.   +2 more
europepmc   +1 more source

The Fetus as Our Patient: The Confluence of Faith and Science in The Care of the Unborn [PDF]

, 2005
Calhoun, Byron C.
core   +2 more sources

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Limited dorsal myeloschisis in three cats: a distinctive form of neural tube defect. [PDF]

JFMS Open Rep, 2020
Butterfield S, Garcia-Gonzalez B, Driver CJ, Rusbridge C.   +3 more
europepmc   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source