Results 141 to 150 of about 414,505 (390)

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Test 
results for lead-rubber bearings for 
Wm. Clayton Building, Toe Toe Bridge and Waiotukupuna Bridge

, 1981
William H. Robinson, Andrew Tucker
openalex   +2 more sources

Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome [PDF]

, 2022
Gözde Tutku Turgut, İbrahim Kalelioğlu, Volkan Karaman, Tuğba Saraç Sivrikoz, Birsen Karaman, Zehra Oya Uyguner, Tuğba Kalaycı   +6 more
openalex   +1 more source

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

Taxonomic studies of the Rotifera (Phylum Aschelminthes) from a Central Amazonian varzea lake, Lago Camaleão (Ilha de Marchantaria, Rio Solimões, Amazonas, Brazil)

, 1983
148 species of rotifers were identified in 22 plankton samples collected in Lago Camaleão, situated on the Ilha de Marchantaria, in the varzea region of the Solimões-Amazonas River system.
Koste, W., Robertson, B.
core  

Turf-toe: super league toe. [PDF]

British Journal of Sports Medicine, 1997
D, Jennings, C, Gissane
openaire   +2 more sources

Time‐ and dose‐related pathological changes in knee osteoarthritis rat model induced by monosodium iodoacetate

Animal Models and Experimental Medicine, EarlyView.
Time‐ and dose‐related pathological changes of knee osteoarthritis rat model induced by monosodium iodoacetate. Abstract Knee osteoarthritis (KOA) is a chronic degenerative disease. Monosodium iodoacetate (MIA) induction is the most commonly used therapeutic effect evaluation and mechanism of action research model; we observed a lack of standardization
Wei Pu, Qi Liu, Shuyan Xue, Siyuan Li, Nan Nan, Yang Liu, Huiqin Hao   +6 more
wiley   +1 more source

Skylab experiments. Volume 6: Mechanics [PDF]

, 1973
Skylab program activities are presented in a form adapted to instruction of high school students. The overall goals of the program are discussed. The specific accomplishments of the mechanics investigations are described.

core   +1 more source

Using design principles as a lens to interpret user needs: a case study using a new 3D tic-tac-toe game [PDF]

J. Joshua Thomas, S. Rajath, Bhavani V. Sankar, Muzammil Bagewadi, Vishal Singh   +4 more
openalex   +1 more source