Results 241 to 250 of about 361,318 (294)

Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic. [PDF]

Biomedicines
Marsili L, Duque KR, Abanto J, Chinchihualpa Paredes NO, Duker AP, Collins K, Miranda M, Bustamante ML, Pauciulo M, Dixon M, Chaib H, Perez-Maturo J, Hill EJ, Espay AJ, Kauffman MA.   +14 more
europepmc   +1 more source

Assessment of the variant prioritisation strategy for genomic newborn screening in the Generation Study

Kaplanis J, Deen D, Sivakumar P, de Almeida Gomes M, Puzriakova A, Leong I, Savage K, Aldam G, Skelton J, Quinn P, Parrish A, Baple E, To M, Stone K, Bick D, Pichini A, Scott R, Thomas E, Kasperaviciute D.   +18 more
europepmc   +1 more source

Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies. [PDF]

Hum Genomics
Zeng Z, Zhang L, Zhou Y, Zhang X, Yi H, Li H, Liu Y, Li J, Chen Q, Chen Y, Yu G, Yi J, Zhang Y, Zhang H, Dong Y.   +14 more
europepmc   +1 more source

Synthetic Data in Healthcare and Drug Development: Definitions, Regulatory Frameworks, Issues

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT With the recent and evolving regulatory frameworks regarding the usage of Artificial Intelligence (AI) in both drug and medical device development, the differentiation between data derived from observed (‘true’ or ‘real’) sources and artificial data obtained using process‐driven and/or (data‐driven) algorithmic processes is emerging as a ...
Giuseppe Pasculli, Marco Virgolin, Puja Myles, Anna Vidovszky, Charles Fisher, Elisabetta Biasin, Miranda Mourby, Francesco Pappalardo, Saverio D'Amico, Mario Torchia, Alexander Chebykin, Vincenzo Carbone, Luca Emili, Daniel Roeshammar   +13 more
wiley   +1 more source

Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome due to a novel GATA3 mutation p.Ala287Asp. [PDF]

Endocrinol Diabetes Metab Case Rep
Vroegindewey L, Kim J, Joseph DJ.
europepmc   +1 more source

Photon Number Coherence in Quantum Dot‐Cavity Systems can be Enhanced by Phonons

Advanced Quantum Technologies, EarlyView.
Photon number coherence (PNC) is important for quantum cryptography. Because of that, the PNC within a quantum dot‐cavity system is investigated theoretically. Phonons, which interact with the quantum dot, surprisingly do not necessarily decrease PNC. It is demonstrated that it is possible to optimize other figures of merit without significant penalty ...
Paul C. A. Hagen, Mathieu Bozzio, Moritz Cygorek, Doris E. Reiter, Vollrath M. Axt   +4 more
wiley   +1 more source

Ocular Pathology and Genetics: Transformative Role of Artificial Intelligence (AI) in Anterior Segment Diseases. [PDF]

Cureus
Venkatapathappa P, Sultana A, K S V, Mansour R, Chikkanarayanappa V, Rangareddy H.   +5 more
europepmc   +1 more source

Assessment of Practical Satellite Quantum Key Distribution Architectures for Current and Near‐Future Missions

International Journal of Satellite Communications and Networking, EarlyView.
ABSTRACT Quantum key distribution (QKD) allows the generation of cryptographic keys beyond the computational hardness paradigm and is befitting for secure data transmission requiring long‐term security. The communication distance of fiber‐based QKD, however, is limited to a few hundred kilometers due to the exponential scaling of signal attenuation ...
Davide Orsucci, Philipp Kleinpaß, Jaspar Meister, Innocenzo De Marco, Stefanie Häusler, Thomas Strang, Nino Walenta, Florian Moll   +7 more
wiley   +1 more source

Hydrolethalus Syndrome: A Case of a Rare Congenital Disorder. [PDF]

Diagnostics (Basel)
Belengeanu V, Marian D, Stana HA, Cojocariu C, Popescu C, Lile IE.   +5 more
europepmc   +1 more source

A novel approach to detecting microduplication in split hand/foot malformation type 3 at the single-cell level: SHFM as a case study. [PDF]

Orphanet J Rare Dis
Wang Y, Li Y, Zeng L, Li W, Dong X, Guo J, Meng X, Lu J, Xu J.   +8 more
europepmc   +1 more source