Results 161 to 170 of about 103,960 (266)

Some Results on Cumulative Residual Inaccuracy Measure of k-Record Values. [PDF]

Entropy (Basel)
Goel R, Kumar V, Vehale S, Scott TC.
europepmc   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Rüdin's Unpublished Family Study From the Early 1920s: “On the Inheritance of Manic‐Depressive Insanity”

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Ernst Rüdin, an important and controversial figure in the history of psychiatric genetics, published only one major empirical study on siblings of dementia praecox (DP) probands in 1916. He conducted a parallel study of siblings of probands with manic‐depressive insanity (MDI), but the resulting monograph, written in the early 1920s, was left ...
Kenneth S. Kendler, Astrid Klee
wiley   +1 more source

Traditional Chinese medicine for type 2 diabetes with metabolic-associated steatotic liver disease: unified effects and design thresholds. [PDF]

Front Endocrinol (Lausanne)
Liu Y, Wang B, Wang L, Xiong H, Zhang H, Cheng Y.   +5 more
europepmc   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Normative data for the 10-min lean test in adults without orthostatic intolerance. [PDF]

Front Neurol
Iftekhar N, Wilson A, Nguty L, Al-Hilali H, Al-Hilali Y, Jain K, Braka A, Osborne T, Sivan M.   +8 more
europepmc   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Definition of Sporadic Early-Onset Invasive Solid Organ Cancers in Adults. [PDF]

Oncol Ther
Barreto SG, Ben-Aharon I, Eng C, Shrikhande SV, Sirohi B, Søreide K, Pandol SJ.   +6 more
europepmc   +1 more source

Adverse Prognostic Impact of Pretransplant Serum Ferritin and Hepcidin on Survival Outcomes After Allogeneic Hematopoietic Stem Cell Transplantation

American Journal of Hematology, EarlyView.
Michelle Pirotte, Marianne Fillet, Laurence Seidel, Evelyne Willems, Sophie Servais, Fréderic Baron, Yves Beguin   +6 more
wiley   +1 more source