Results 151 to 160 of about 852,084 (305)

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +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

Efficiency gains due to using missing data procedures in regression models [PDF]

Economics
Nijman, T.E., Palm, F.C.
core   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Pacific Australia Labour Mobility Workers in Australia: Lived Experiences of Health and Navigating Health Systems. [PDF]

Health Promot J Austr
Vaughan G, O'Mullan C, Preston R, Fox H.
europepmc   +1 more source

Palm-Spazzer (Spazzer-Palm, Palm-Spatzer, geb. Spatzer), Antonia

, 2001
* 17.2.1823 Pest (Budapest), † ?. Sängerin (Sopran).
openaire   +1 more source

Conditioning Electrical Stimulation for Patients with Moderate or Severe Carpal Tunnel Syndrome: Double Blinded Randomized Controlled Trial

Annals of Neurology, EarlyView.
Objective Carpal tunnel syndrome (CTS) can drastically impair one's ability to work and interferes with activities of daily living. We recently demonstrated that, in rodents, conditioning electrical stimulation (CES) delivered to the nerve 7 days prior to surgery imparts a conditioning lesion‐like effect by accelerating the rate of regeneration along ...
Yusuke Osaki, Jaret L. Olson, Michael J. Morhart, Matthew W. Curran, Douglas W. Zochodne, K. Ming Chan, on behalf of the Central and Northern Alberta Peripheral Nerve Injury Research Consortium, Hollie Power, Adil Ladak, Lindsay Hubenig, Alto Lo, Christine Webber, Karyne Rabey, Andrew Jack, Joe Watt, Mithun Rajshekar, Ellen Lee, Glyn Murgatroyd, Dan Yeung, Kathleen O'Grady   +19 more
wiley   +1 more source

Enhanced soil attributes, yield and fruit quality of Medjool date palm (Phoenix dactylifera L.) in response to filter mud/cake for drylands sustainability. [PDF]

PLoS One
Abo-Ogiala A, Salama AM, Aboryia MS, Fikry AM, Rebouh NY, Shokr MS, Khalafallah N.   +6 more
europepmc   +1 more source

Tau Pathology in Alzheimer's Disease Uniquely Affects Sulcal Depths

Annals of Neurology, EarlyView.
Objective Though it is widely known that tau deposition affects brain structure, the precise localization of these effects is poorly understood, especially in relation to gyral and sulcal anatomy. We investigated whether tau pathology in Alzheimer's disease (AD) preferentially affects sulci, and particularly sulcal depths.
Samira A. Maboudian, Corrina S. Fonseca, Adam C. Martersteck, Yishu Chao, Yuheng Chen, Daniela Ushizima, Duygu Tosun, Lea T. Grinberg, Kevin S. Weiner, William J. Jagust, for the Alzheimer's Disease Neuroimaging Initiative   +10 more
wiley   +1 more source

Drivers and conservation impacts of innovative tree nesting in an isolated island population of the red-billed chough. [PDF]

Ecology
Blanco G, Notario D, Palacios-Martínez I, Frías Ó, Montoya Ayala R, Carrete M.   +5 more
europepmc   +1 more source