Results 201 to 210 of about 132,524 (284)

Key residues in SARS-CoV-2 NSP3 hypervariable region are necessary to modulate early stress granule activity. [PDF]

J Virol
Alvarado RE, Lokugamage KG, Garvanska D, Estes LK, Ahearn Y, McLeland AM, Moayyed A, Chen J, Mendez BL, Plante JA, Plante KS, Johnson BA, Nilsson J, Menachery VD.   +13 more
europepmc   +1 more source

DNA Circles as Vehicles for Genes to Evade Chromosomal Discipline. [PDF]

Genome Biol Evol
Rojas-Triana M, Boomsma JJ, Regenberg B.
europepmc   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Spatial distribution of acute myeloid leukaemia in Denmark. [PDF]

Environ Health
Jensen RH, Teglgaard C, Nielsen LH, Bertelsen LD, Christensen HS, Bøgsted M, Severinsen MT.   +6 more
europepmc   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source

A New Procedure-Specific Assessment Tool is Superior to Objective Structured Assessment of Technical Skills in Evaluating Orthopaedic Technical Skills: A Cadaveric Simulation Validation Study. [PDF]

JB JS Open Access
Jacobsen ME, Hare KB, Sillesen N, Landgren M, Engel KD, Johnsen LØ, Konge L, Gustafsson A.   +7 more
europepmc   +1 more source

Precambrian Evolution of North and North-East Greenland: Crystalline Basement and Sedimentary Basins [PDF]

, 2000
Jepsen, H. F., Kalsbeek, F.
core  

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Approach to the Patient With Turner Syndrome.

J Clin Endocrinol Metab
Turner HE, Johannsen EB, Smyth A, Orchard E, Gravholt CH.   +4 more
europepmc   +1 more source