Results 211 to 220 of about 43,400 (289)

Prenatal diagnosis and genetic counseling of a <i>de novo</i> 16q24.3 microdeletion in a Chinese family. [PDF]

J Int Med Res
Wu W, Zuo Y, Jin J.
europepmc   +1 more source

When biology meets materials science – Interdisciplinary applications of electron microscopy

Journal of Microscopy, EarlyView.
Abstract Research at the interface between biology and materials science creates challenges for electron microscopists. Everything from the sample preparation to the choice of imaging and analytical techniques and the interpretation of the resulting data refuses to sit comfortably within the domain of one discipline or the other.
Martin Saunders, Peta L. Clode, Enoch V. S. Wong, Anna‐Lee Jessop, Gerd E. Shröder‐Turk, Felix de Tombeur   +5 more
wiley   +1 more source

Genetic Disorders Detectable by Fetal MRI: A Review. [PDF]

Diagnostics (Basel)
Wong KC, Chow TH, Cheung C, Chan JPK, Lee JCY, Kan EYL, Chu WCW.   +6 more
europepmc   +1 more source

Soft tissue abnormalities in the congenital limb malformation radial dysplasia (RD): Their clinical impact and treatment significance

Journal of Anatomy, EarlyView.
We review the characteristic changes to the limb soft tissue and neurovascular abnormalities that have been described in the congenital limb birth defect, Radial Dysplasia. These include consistent changes in muscle anatomy or absence of specific muscles, persistent median arteries and absent radial arteries and consistent alterations in neural ...
Marco Correia Duarte, Sultan M. Al‐Zyoud, Eleanor M. Feneck, Duane James, Gillian D. Smith, Branavan Sivakumar, Malcolm P. O. Logan   +6 more
wiley   +1 more source

Adult presentation of Simpson-Golabi-Behmel syndrome due to a hemizygous <i>GPC3</i> stopgain variant mimicking acromegaly. [PDF]

JCEM Case Rep
Rishabh RK, Gadde S, Acharya H, Bhat V, Delampady K, Hk G.   +5 more
europepmc   +1 more source

Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies. [PDF]

J Med Genet
Graham SA, McCabe A, Harrison V, Castleman J, Doyle S, Allen S.   +5 more
europepmc   +1 more source

Hydrogels in Periodontal and Craniofacial Regeneration: Current Applications and Next‐Generation Biomaterials

Journal of Periodontal Research, EarlyView.
Hydrogel‐based therapies have proven to be valuable tools to address the unique regeneration challenges of complex multi‐domain periodontal and craniofacial tissues. This review highlights and classifies clinically approved and emerging hydrogel therapies indicated for the regeneration of periodontal and craniofacial tissues.
Z. Gouveia, M. Diba, B. T. Yilmaz, Jae‐Kook Cha, D. T. Wu, D. J. Mooney   +5 more
wiley   +1 more source

De Novo RRAS2 Pathogenic Variant in a Fetus With Bilateral Radial Ray and Multisystem Anomalies. [PDF]

Prenat Diagn
Legro NR, Haizler-Cohen L, Genthe W, Greenberg V.   +3 more
europepmc   +1 more source

The futuristic manifolds of REM sleep

Journal of Sleep Research, Volume 34, Issue 2, April 2025.
Summary Since one of its first descriptions 70 years ago, rapid eye movement sleep has continually inspired and excited new generations of sleep researchers. Despite significant advancements in understanding its neurocircuitry, underlying mechanisms and microstates, many questions regarding its function, especially beyond the early neurodevelopment ...
Liborio Parrino, Ivana Rosenzweig
wiley   +1 more source

Knuckle, Knuckle, Dimple, Dimple: Do Not Miss A Diagnostic Opportunity. [PDF]

Clin Case Rep
Pellegrin MC, Tamaro G, Fachin A, Barbi E, Tornese G.   +4 more
europepmc   +1 more source