Results 161 to 170 of about 689,735 (295)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Stability of strange quark matter: model dependence [PDF]

, 2002
W. M. Alberico
openalex   +1 more source

Treg Cells Modulate Neuroinflammation and Behavioral Deficits in Autism: Evidence From MR‐Based Genetic Analyses and Experimental Models

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a neurodevelopmental condition that is increasingly linked to immune dysfunction and neuroinflammation. Regulatory T cells (Tregs), which are crucial in maintaining immune homeostasis, have been implicated in the pathogenesis of ASD.
Zuqing Nie, Xinyi Xu, Junhao Chen, Huiling Chen, Meng Li, Yang Zhang, Zhiwei Li, Chen Shen, Jie Wen, Xia Cao   +9 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Rüdin's Unpublished Family Study From the Early 1920s: “On the Inheritance of Manic‐Depressive Insanity”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

Hadronic SU(3) parity doublet model for dense matter and its extension to quarks and the strange equation of state [PDF]

, 2011
Jan Steinheimer, S. Schramm, H. Stöcker
openalex   +1 more source

Model of hybrid star with baryonic and strange quark matter in Tolman-Kuchowicz spacetime

, 2022
Pramit Rej, Piyali Bhar
openalex   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

BrainAGE in superagers: cross-sectional and longitudinal analyses in older adults aged 80+ with youthful episodic memory. [PDF]

Geroscience
Gaser C, Garo-Pascual M, Strange BA.
europepmc   +1 more source

Don't Worry About Her; Intersectionality, and the Role of Systems and Structures in the Embodied Experiences of Young Women's Use of Violence

Australian Journal of Social Issues, EarlyView.
ABSTRACT Systems and structures designed to protect and support young people, specifically (in this paper) young women, are ironically the same systems that maintain gender disparity. Consequently, this has influenced the embodied identities of young women who experience and use violence. Such systemic and structural intersectionality has impacted upon
Louise Rak, Tamara Blakemore, Elsie Randall, Meaghan Katrak Harris   +3 more
wiley   +1 more source

Correlation between unconventional superconductivity and strange metallicity revealed by operando superfluid density measurements. [PDF]

Sci Adv
Zhang R, Qin M, Li C, Zhao Z, Wei Z, Xu J, Jiang X, Cheng W, Shi Q, Wang X, Yuan J, Li Y, Chen Q, Xiang T, Sachdev S, Li ZX, Jin K, Zhao Z.   +17 more
europepmc   +1 more source