Results 211 to 220 of about 463,377 (333)

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Recrystallization During Annealing of Low-Density Polyethylene Non-Woven Fabric by Melt Electrospinning. [PDF]

Polymers (Basel)
Ren Y, Li C, Ren M, Gao D, Tang Y, Wu C, Chu L, Zhang Q, Zhang S.   +8 more
europepmc   +1 more source

A Population‐Based Assessment of Cancer Risk in Children With VACTERL

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark, Alexander Renwick, Giorgio Tettamanti, Rachel D. Harris, Tania A. Desrosiers, Andrew F. Olshan, Amanda E. Janitz, Michael E. Scheurer, Charles J. Shumate, Angela E. Scheuerle, Sharon E. Plon, Chad D. Huff, Ann Nordgren, Barbara Luke, Philip J. Lupo, Jeremy M. Schraw   +15 more
wiley   +1 more source

Analytical approach for modelling of thread crimp in jacquard woven two-dimensional fabrics. [PDF]

Sci Rep
Sirková BK, Mertová I.
europepmc   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Soft, breathable, and recyclable MXene fabrics for wearable electrophysiological recordings.

Mater Horiz
Lee K, Linares Gutierrez O, Bai W.
europepmc   +1 more source

A New Method for Preparing Cross-Sections of Polymer Composite Membranes for TEM Characterization by Substrate Stripping and Double-Orientation Embedding. [PDF]

Membranes (Basel)
Ren H, Zhang Z, Li Y, Liu S, Zhang X.
europepmc   +1 more source

Participatory Policy Development: Reflections on Designing the Strong Roots for Our Futures Program in Victoria

Australian Journal of Social Issues, EarlyView.
ABSTRACT In this paper, we trace the journey to create the Strong Roots for our Futures Program, a government program to resource and support Traditional Owners to undertake a range of activities in areas where no state recognition existed. We provide a background to state recognition in Victoria before considering the program design, leading to an ...
Nell Reidy, Bhiamie Williamson, Jesse Williams   +2 more
wiley   +1 more source

Impact of Microstructure on Sensing Performance of Fiber-Based Iontronic Pressure Sensors: A Comparative Study. [PDF]

Sensors (Basel)
Liu C, Xu J, Yang S, Xu Y, Wang J, Liu X, Wang L, Ding Y.   +7 more
europepmc   +1 more source