Results 71 to 80 of about 56,420 (271)

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Homogeneity of Bilayer Graphene

, 2012
We present non-linear transport measurements on suspended, current annealed bilayer graphene devices. Using a multi-terminal geometry we demonstrate that devices tend to be inhomogeneous and host two different electronic phases next to each other.
Freitag, Frank, Maurand, Romain, Schönenberger, Christian, Trbovic, Jelena, Weiss, Markus   +4 more
core   +1 more source

Interference Effect in Multi-level Transport through a Quantum Dot [PDF]

, 2004
We present experimental results and a model to solve the problem of "in-phase Coulomb peaks" observed in transport through a quantum dot. In a marginal region between Coulomb-blockade and open-dot, we have observed Fano-type interference through two ...
Aikawa, Hisashi, Iye, Yasuhiro, Katsumoto, Shingo, Kobayashi, Kensuke, Sano, Akira   +4 more
core   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Bias and temperature dependence of the 0.7 conductance anomaly in Quantum Point Contacts

, 2000
The 0.7 (2e^2/h) conductance anomaly is studied in strongly confined, etched GaAs/GaAlAs quantum point contacts, by measuring the differential conductance as a function of source-drain and gate bias as well as a function of temperature. We investigate in
A. E. Hansen, A. Forchel, A. Kristensen, A. Kristensen, A. Kristensen, A. Yacobi, B. Spivak, B.E. Kane, B.J. van Wees, C. B. Sørensen, C. J. Marckmann, C.-K. Wang, C.-T. Liang, D.A. Wharam, F. Beuscher, H. Bruus, J. B. Jensen, J. Nygård, K.J. Thomas, K.J. Thomas, K.J. Thomas, L. Martin-Moreno, L.I. Glazman, L.P. Kouwenhoven, M. Michel, N.K. Patel, N.K. Patel, P. E. Lindelof, R.D. Tscheuschner, S. Tarucha   +29 more
core   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Cotunneling Spectroscopy in Few-Electron Quantum Dots

, 2004
Few-electron quantum dots are investigated in the regime of strong tunneling to the leads. Inelastic cotunneling is used to measure the two-electron singlet-triplet splitting above and below a magnetic field driven singlet-triplet transition.
A. C. Gossard, C. M. Marcus, C. Yannouleas, D. M. Zumbühl, M. P. Hanson   +4 more
core   +1 more source

Higher Network Activity Induced by Tactile Compared to Electrical Stimulation of Leech Mechanoreceptors [PDF]

, 2018
The tiny ensemble of neurons in the leech ganglion can discriminate the locations of touch stimuli on the skin as precisely as a human fingertip. The leech uses this ability to locally bend the body-wall away from the stimulus. It is assumed that a three-
Fathiazar, Elham, Hilgen, Gerrit, Kretzberg, Jutta   +2 more
core   +3 more sources

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Early experience with transcatheter ventricular septal defects closure with the KONAR-MF multifunctional occluder

Frontiers in Pediatrics
IntroductionTranscatheter device closure of ventricular septal defects (VSDs) offers an appealing and effective alternative to surgical repair. The Lifetech™ Konar-Multifunctional Occluder (MFO) VSD occluder has gained increasing application due to its ...
Abdelrahman Elafifi, Susy Kotit, Mahmoud Shehata, Omar Deyaa, Asmaa Ramadan, Asmaa Ramadan, Mohammad Tawfik, Mohammad Tawfik   +7 more
doaj   +1 more source