Results 101 to 110 of about 1,460,356 (290)

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

À Rome, pour Rome et contre Rome

Annexée en 1809, puis devenue seconde capitale de l’Empire en 1810, la ville de Rome a acquis un rôle fondamental dans la construction symbolique de l’identité politique napoléonienne. Ainsi, dans le cadre du projet de renouveau, d’embellissement et d’équipement de l’ancienne capitale papale, les autorités françaises entamèrent une campagne de fouilles
openaire   +2 more sources

Awareness towards Chikungunya virus infection risk by general practitioners in Rome: a questionnaire based survey before the 2017 outbreak [PDF]

, 2018
Autochthonous cases of Chikungunya (CHIKV) have been recently detected in Rome. A survey was conduct- ed prior to the 2017 outbreak to assess knowledge, attitude, and practices towards CHIKV infections on 103 randomly selected general practitioners (GPs),
Caputo, B., Di Lascio, A., Gatto, G., Russo, G., Solimini, A. G.   +4 more
core  

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

Cardinals and the War of Ferrara

Royal Studies Journal, 2017
The bestowal of a red hat can turn even the most humbly born cleric into an ecclesiastical prince, but whereas few cardinals of the modern era have been born princely, most of those created in the Renaissance period could claim to be of noble lineage and
Stella Fletcher
doaj   +1 more source

Sterilizable photomultiplier tubes Final report [PDF]

Environment, static acceleration, vibration, shock, gas contamination, and life tests in development of sterilizable photomultipliers for space ...
Dumas, E. J., Rome, M.
core   +1 more source

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health‐Related Quality of Life and Neurologic Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) and the clinically related Noonan syndrome with multiple lentigines (NSML) belong to the group of RASopathies. Although pain is not mentioned as a characteristic feature, it has recently been reported as a clinically significant problem.
Jos M. T. Draaisma, Wesley Reintjes, Erika Leenders, Fieke Draaisma, Melanie Burgers, Lotte Kleimeier, Marco Tartaglia, Merel Klaassens, Ruud Becks, Steven Renes, Ellen Wingbermühle, Nicol C. Voermans, Nens van Alfen   +12 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Improved sterilizable multiplier phototubes Final report [PDF]

Development of sterilizable multiplier phototube for scintillation ...
Dumas, E. J., Rome, M.
core   +1 more source

‘Turkeys Cannot Vote for Christmas’: Why Epistemic Disobedience in an Anti‐Black World Matters

Australian Journal of Social Issues, EarlyView.
ABSTRACT Never in the history of global coloniality has the idea of epistemic disobedience been as important as in the 21st century. This is not only because the struggle for decolonisation has shifted from physical confrontation between the coloniser and the colonised into a battle of ideas but also because the former has deployed the idea of ...
Morgan Ndlovu
wiley   +1 more source