Results 121 to 130 of about 545,155 (294)

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

The Role of Chemistry Across Disciplines From Humanities to Life Sciences in Understanding Complexity and Emergence

Angewandte Chemie, EarlyView.
This study explores the origins of life by linking prebiotic chemistry, the emergence of information‐carrying molecules such as RNA and proteins, and philosophical questions about consciousness. The study emphasizes the role of molecular evolution in the Central Dogma and provides insights into the chemical origins of biology and the basis of life's ...
Harald Schwalbe, Josef Wachtveitl, Alexander Heckel, Florian Buhr, Sabrina Toews, Thomas M. Schimmer   +5 more
wiley   +2 more sources

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

A Systematic Review of Adverse Childhood Experiences and Epigenetic Age Acceleration in Later Adult Life Measured With Second and Third‐Generation Epigenetic Clocks

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT We examined the relationship between adverse childhood experiences (ACEs) and epigenetic age acceleration (EAA) in adulthood as measured by second and third generation epigenetic clocks by performing a systematic review of the literature. The electronic databases MEDLINE and EMBASE were searched on 17 July 2023.
Matthew Green, Laura Horsfall, Azam Saied   +2 more
wiley   +1 more source

The Relationship Between Anthropometric Characteristics, Chronological Age, and Training Age with Speed, Agility, and Explosive Power in Handball Players

Applied Sciences
(1) Background: Research examining the combined influence of anthropometric characteristics, chronological age, and training age on motor performance in handball is limited.
Zeynep İnci Karadenizli, İsmail İlbak, Bojan M. Jorgić, Ilie Onu, Mădălina-Gabriela Coman, Daniel-Andrei Iordan   +5 more
doaj   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Das Fragment des englischen Tagebuches von Alexander von Humboldt

HiN - Alexander von Humboldt im Netz. Internationale Zeitschrift für Humboldt-Studien, 2008
Article in german, abstracts in english and germanAlexander von Humboldt’s journal, which he kept in 1790 during his journey with Georg Forster to England, is presented in this paper for the first time. So far this document had been considered to be lost.
Bernd Kölbel, Martin Sauerwein, Katrin Sauerwein, Steffen Kölbel, Cathleen Buckow   +4 more
doaj  

Video Synopsis Generation Using Spatio-Temporal Groups

, 2017
Millions of surveillance cameras operate at 24x7 generating huge amount of visual data for processing. However, retrieval of important activities from such a large data can be time consuming.
Ahmed, A., Choi, H., Dogra, D. P., Kar, S., Kim, I., Lee, S., Patnaik, R.   +6 more
core   +1 more source

Establishment of a mouse model of propylthiouracil‐induced antineutrophil cytoplasmic antibody‐associated vasculitis

Animal Models and Experimental Medicine, EarlyView.
This graphical abstract summarizes our study in which we established a novel murine model of antineutrophil cytoplasmic antibody (ANCA)‐associated vasculitis. Neutrophil recruitment was induced using thioglycolate, followed by timed administration of propylthiouracil and phorbol 12‐myristate 13‐acetate to generate DNase I‐resistant neutrophil ...
Sakiko Masuda, Momo Uchizawa, Chihiro Terasaka, Takumi Abe, Tetsuro Nakamura, Yuka Nishibata, Yusho Ueda, Daigo Nakazawa, Utano Tomaru, Akihiro Ishizu   +9 more
wiley   +1 more source

A study of factors related to primary grade spelling: correlations of factors studied. [PDF]

, 1951
Thesis (Ed.M.)--Boston ...
Conway, Virginia, DiDio, Mildred G., Dolan, Grace M., Lynch, Mary I., Martell, Patricia C., O'Hearn, Elizabeth M., Russell, Lucie E.   +6 more
core   +1 more source