Results 131 to 140 of about 194,345 (208)

Receipt of Family Planning Services in the United States: 2022-2023.

NCHS Data Brief
Martinez G.
europepmc   +1 more source

The effects of COVID-19 pandemic on women's access to maternal health and family planning services in Egypt: an exploratory study in two governorates. [PDF]

BMC Health Serv Res
Abdel Tawab N, Tayel SA, Radwan SM, Ramy MA.   +3 more
europepmc   +1 more source

Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose and are associated with an increased risk of lethality. The differential diagnosis of antenatal presentations of radial ray malformations includes Fanconi anemia (FA), an inherited bone marrow failure disorder associated with congenital anomalies in ...
Ethan M. Scott, Olivia K. Wenger, Matthew Adams, Emma L. Baple, Andew Crosby, Joseph Leslie   +5 more
wiley   +1 more source

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa A. Haendel, Tzung‐Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka, Tim Laurent, Ni‐Chung Lee, Kirsty McWalter, Michel Michaelides, Klaus Mohnike, Nikolas Pontikos, Maria J. Guillen Sacoto, Yousif J. Shwetar, Vincent D. Ustach, Rebekah L. Waikel, William Woof   +20 more
wiley   +1 more source

Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for Improvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This exploratory cross‐sectional study aimed to estimate the family quality of life (FQoL) among 70 Brazilian families with children with Cornelia de Lange syndrome (CdLS). Data were collected using sociodemographic and clinical data forms, the Barthel index for activities of daily living, and the Beach Center FQoL Scale, a 5‐point Likert tool
Aline Apis, Beatriz Carvalho Nunes, Thainá Vilella, Rafaela Catelan Martins Pereira, Rui Fernando Pilotto, Lucimar Retto da Silva de Avó, Maria Isabel Melaragno, Carla Maria Ramos Germano, Débora Gusmão Melo   +8 more
wiley   +1 more source

The Effects of COVID-19 Pandemic on Women’s Access to Reproductive Health and Family Planning Services in Egypt: An exploratory study

, 2022
Tawab NA, Tayel SA, Radwan SM, Ramy MA.
europepmc   +1 more source

Internalizing Psychiatric Symptoms in People With Mosaicism for Trisomy 21

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 198, Issue 5, July 2025.
ABSTRACT People with mosaicism for trisomy 21 have been shown to exhibit many of the same phenotypic traits present in people with non‐mosaic Down syndrome, but with varying symptom severity. However, the behavioral phenotype of people with mosaic Down syndrome (mDS) has not been well characterized.
Ruth C. Brown, Allison D'Aguilar, Quinn Hurshman, Rebekah NailorZee, Timothy P. York, George Capone, Ananda B. Amstadter, Colleen Jackson‐Cook   +7 more
wiley   +1 more source

Do Influential Articles on the Genetics of Autism Show Evidence of Engagement With the Autistic Community?

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Investigations into the etiology and genetic basis of autism continue to drive much autism research, yet reports are emerging of this research not aligning with priorities of autistic people. Engagement of autistic people in the research process is a key way to take their perspectives on board.
Heidi Kristiina Kaljusto, Emma Wilson, Sue Fletcher‐Watson   +2 more
wiley   +1 more source

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp, Elizabeth A. VanSickle, Julianne Michael, Chad R. Schultz, Kelly Nguyen, Melissa Hoefer, Surender Rajasekaran, André S. Bachmann   +7 more
wiley   +1 more source

Thiophene Containing Polycyclic Aromatic Hydrocarbon Monkey Saddles

Asian Journal of Organic Chemistry, EarlyView.
A series of thiophene containing polycyclic aromatic hydrocarbon monkey saddles is presented. The core structure was successfully functionalized to tune the optoelectronic properties and furthermore path the way to use these monkey saddles as building block, for example for oligomeric structures as well as organic cage compounds.
Tobias Kirschbaum, Cornelius Daiber, Joshua A. Esteves, Bahiru P. Benke, Frank Rominger, Sven M. Elbert, Michael Mastalerz   +6 more
wiley   +1 more source