Results 131 to 140 of about 4,709 (201)

Structure and function of the ovipositor of the encyrtid wasp Microterys flavus. [PDF]

Front Zool
Kraft R, Betz O, Rack A, Eggs B.
europepmc   +1 more source

Diagnosis and recombinant human growth hormone treatment of Wiedemann-Steiner syndrome: discovery of novel KMT2A variants and review of existing literature. [PDF]

BMC Pediatr
Wang M, Hu J, Zhang Z, Wang X, Yuan S, Zhao Y, Zhang Y, Wei H, Chen J, Zhang Y, Chen Y.   +10 more
europepmc   +1 more source

Molecular and clinical aspects of histone-related disorders. [PDF]

Hum Genomics
Al Ojaimi M, Banimortada BJ, Alragheb A, Hajir RS, Alves C, Walid D, Raza A, El-Hattab AW.   +7 more
europepmc   +1 more source

Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review. [PDF]

Orphanet J Rare Dis
Bessis D, Vidaud D, Meyer P, Pacot L, G V, Bonnard AA, Capri Y, Coubes C, Herman F, Lacombe D, Molinari N, Poujade L, Roubertie A, Van Gils J, Verloes A, Geneviève D, Cavé H, Willems M.   +17 more
europepmc   +1 more source

Carpal tunnel syndrome in paediatric patients: A novel association with Kosaki overgrowth syndrome. [PDF]

JPRAS Open, 2020
Walker H, Foster A, Cole T, Jester A.
europepmc   +1 more source

Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder. [PDF]

Eur J Hum Genet
Albuainain F, Shi Y, Lor-Zade S, Hüffmeier U, Pauly M, Reis A, Faivre L, Maraval J, Bruel AL, Them FTM, Haack TB, Grasshoff U, Horber V, Schot R, van Slegtenhorst M, Wilke M, Barakat TS.   +16 more
europepmc   +1 more source

Metabolic Dysfunction-Associated Steatotic Liver Disease in a Patient with Phelan-McDermid Syndrome. [PDF]

Life (Basel)
Boccuto L, Scarlata GGM, Moffitt BA, Sarasua SM, Phelan K, Rogers C, Abenavoli L.   +6 more
europepmc   +1 more source

Full-scale measurements to assess squat and vertical motions in exposed shallow water [PDF]

, 2018
Eloot, Katrien, Mansuy, Marc, Vantorre, Marc, Verwilligen, Jeroen   +3 more
core   +1 more source

A new species of <i>Pseudechinopsyllus</i> George, 2006 (Copepoda, Harpacticoida, Cletodidae) from Campos Basin, Brazil (southwest Atlantic Ocean), with remarks on the phylogeny of the genus. [PDF]

Zookeys
George KH, Wandeness AP, Santos PJP.
europepmc   +1 more source

A Novel YWHAG Variant L173S Causes Developmental and Epileptic Encephalopathy by Disrupting the Hydrophobic Internal Protein Structure. [PDF]

Mol Genet Genomic Med
Jin Y, Niu Q, Liang SN, Luo ML, Su XL, Tao Z.   +5 more
europepmc   +1 more source