Results 231 to 240 of about 88,189 (312)

From the rare to the essential: analyzing the needs of physicians and families managing rare diseases. [PDF]

BMC Health Serv Res
Mussio I, Triunfo P, Gerstenblüth M, Raggio V, Cardozo P, Naya H, Spangenberg L.   +6 more
europepmc   +1 more source

Iliad and Odyssey: Areté and Timé

, 2003
Abad, Gemino
core  

Science of omics: a molecular space odyssey

Experimental Physiology, EarlyView.
Salomé Coppens, Christophe Hirtz, Margaux Vignon, Damian M. Bailey   +3 more
wiley   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, Volume 110, Issue 1, Page 46-63, July 2026.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

Advancing Lipid Management: Saudi Heart Association Position Statement on PCSK9-targeted Therapies in the Primary and Secondary Prevention of Cardiovascular Disease. [PDF]

J Saudi Heart Assoc
AlHabeeb W, Alamri H, Elbadawi H, AlRuthia YS, Alharbi W, Alshammeri O, Tash A, Almoziny S, Kholaif N, Halawani H, AlMahdi F, Yar W, Alhabib KF.   +12 more
europepmc   +1 more source

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, Volume 110, Issue 1, Page 125-130, July 2026.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source

Homozygous FDXR variant in twin sisters with spastic paraparesis followed by acute progressive flaccid quadriparesis. [PDF]

BMC Neurol
Tafakhori A, Sarvestani Z, Kariminejad A, Tajsharghi H, Seo GH, Ryu SW, Heydari Havadaragh S.   +6 more
europepmc   +1 more source

Wound Healing and Angiogenic Profiling of Dermal Endothelial Cells Isolated From People With Type 2 Diabetes

The FASEB Journal, Volume 40, Issue 12, 30 June 2026.
Primary human dermal microvascular endothelial cells (HDMVECs) isolated from individuals with type 2 diabetes (T2D) exhibit dysregulated intrinsic properties, including altered morphology, reduced nitric oxide (NO) availability, and loss of endothelial identity.
James Shadiow, Corey E. Mazo, Pallavi Varshney, Jeongjin J. Kim, Alexander Ahn, Sophie H. Chong, Cory A. Lutz, Crystal M. Holmes, Michael E. Munson, Brian M. Schmidt, Sascha N. Goonewardena, Richard D. Minshall, Thomas P. J. Solomon, Andrew T. Ludlow, Jacob M. Haus   +14 more
wiley   +1 more source

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases. [PDF]

Genet Med Open
Torella A, Morleo M, Spampanato C, Castello R, Zanobio M, Piluso G, Di Letto P, Onore ME, Rahman SI, Musacchia F, Pinelli M, Vitiello G, De Riso G, Selicorni A, Mariani M, Daolio C, Capra V, Scala M, Nardecchia F, Galosi S, Mastrangelo M, Manti F, Milani D, Romano C, Greco D, Ciaccio C, D'Arrigo S, De Laurentiis A, Coppola A, Zollino M, Pasquetti D, L'Erario FF, Tummolo A, Santoro C, Garavelli L, Marini C, Bigoni S, Tirozzi A, Cetrangolo V, Parenti G, Di Bernardo D, Peron A, Maitz S, Accogli A, Cappuccio G, Banfi S, Casari G, Ballabio A, Brunetti-Pierri N, Nigro V, Telethon Undiagnosed Disease Study group.   +50 more
europepmc   +1 more source

Glucocorticoid Receptor Translational Isoforms Generate Unique Glucocorticoid Responses in the Mouse Brain

The FASEB Journal, Volume 40, Issue 12, 30 June 2026.
GR‐A knockin mice were generated that express the classic full‐length glucocorticoid receptor (GR‐A) but lack the highly conserved translational isoforms GR‐B, GR‐C1, GR‐C2, GR‐C3, GR‐D1, GR‐D2, and GR‐D3 that have progressively shorter N‐terminal transactivation domains (NTDs).
Robert H. Oakley, Tatsuya Sueyoshi, Sivapriya Ramamoorthy, Viktoriya D. Nikolova, David R. Goulding, Jianying Li, Manas K. Ray, Sheryl S. Moy, John A. Cidlowski   +8 more
wiley   +1 more source