Results 211 to 220 of about 208,817 (276)

Loss of Cdc42 causes abnormal optic cup morphogenesis and microphthalmia in mouse. [PDF]

Front Cell Neurosci
Hofstetter KS, Haas PM, Kuntz JP, Zheng Y, Fuhrmann S.   +4 more
europepmc   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Experimental characterization of complex atmospheric flows: A wind turbine wake case study. [PDF]

Sci Adv
Angelou N, Sjöholm M, Mikkelsen TK.
europepmc   +1 more source

Towards the National Curriculum for English: examples of what pupils with special educational needs should be able to do at each P level [PDF]

core  

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Total hip arthroplasty for acute acetabular fractures through the replace-in-situ philosophy : radiological assessment of component stability. [PDF]

Bone Jt Open
Abrahams JM, Ramasamy B, Dong X, Chou DTS, Costi K, Solomon LB, Callary SA.   +6 more
europepmc   +1 more source

High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective SOD1 is the second most frequently mutated gene in European patients with amyotrophic lateral sclerosis (ALS). Given the recent authorization of SOD1‐targeted antisense oligonucleotides for SOD1‐ALS, prompt screening for SOD1 mutations in patients with ALS patients is highly recommended.
Delia Gagliardi, Chiara Villella, Matteo Zanovello, Virginia Iacobelli, Stefania Corti, Giacomo Pietro Comi, Pietro Fratta, Henry Houlden, Arianna Tucci, Dario Ronchi   +9 more
wiley   +1 more source

False but phonologically plausible linguistic priors induce cross-linguistic auditory illusions and attenuate electrophysiological markers of surprise. [PDF]

Imaging Neurosci (Camb)
Giraldi E, Frosolone M, Corcoran AW, Barca L, Corsini A, Donnarumma F, D'Ausilio A, Pezzulo G.   +7 more
europepmc   +1 more source

Rolando Fracture Complication After Nonstandard Surgical Treatment. [PDF]

Cureus
Florek J, Georgiew F, Florek P, Petrovych O, Janowiec S.   +4 more
europepmc   +1 more source

Parisian Traveler

, 2006
Butcher, Amy E.
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