Results 201 to 210 of about 18,240,408 (389)

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Correction: MHCII reduction is insufficient to protect mice from alpha-synuclein-induced degeneration and the Parkinson's HLA locus exhibits epigenetic regulation. [PDF]

Sci Rep
Kline EM, Jernigan JE, Scharer CD, Maurer J, Hicks SL, Herrick MK, Wallings RL, Kelly SD, Chang J, Menees KB, Manfredsson FP, McFarland NR, Boss JM, Tansey MG, Joers V.   +14 more
europepmc   +1 more source

The altarpiece of the Transit of the Soul of Saint Bernard of the Real Monastery of Saint Mary of Alcobaça: history, execution and conservation [PDF]

, 2012
André Varela Remígio
openalex   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Catharine Macaulay's influence on Mary Wollstonecraft [PDF]

, 2019
Alan Coffee
openalex  

Digital natives

BDJ, 2012
Hannah Hahn
semanticscholar   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Mary as Mother, Jesus as Mother: Affective Spirituality in Julian of Norwich’s Revelations of Divine Love and Geoffrey Chaucer’s Prioress’ Tale

, 2013
Elizabeth Preysner
openalex   +1 more source

Mary Kemperink, Anders dan de anderen. Homoseksualiteit op het snijvlak van literatuur en wetenschap (Querido Facto; Amsterdam, 2024) 534 p., €32,50 ISBN 9789021487250

Marijke Huisman
openalex   +1 more source

Characterization of di‐gital, tri‐gital, and tetra‐gital temporal movement of systolic blood pressure on the arterial pulse waveform of rats at different vascular stiffness

Animal Models and Experimental Medicine, EarlyView.
The example of the time dependent fluctuation of systolic pressure on rat arterial pulse waveform in ms. The four levels of the systolic pressure fluctuation show di‐gital, tri‐gital and tetra‐gital fluctuation. The red dots represent particular heartbeats. Abstract Background An arterial stiffness is an indicator of many cardiovascular diseases.
Anton Misak, Lenka Tomasova, Marian Grman, Karol Ondrias   +3 more
wiley   +1 more source