Results 141 to 150 of about 67,614 (310)
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
Ethnic Options, Covering, and Passing : Multiracial and Multiethnic Identities in Japan
, 2017 Even though the number of multiracial and multiethnic Japanese, socially recognized and identified as “haafu (half)” are increasing, their identities and experiences are seldom critically analyzed.
Osanami Törngren, Sayaka
core
, 2022 S.22-26During the last decade, Metal Injection Moulding (MIM) has become an attractive manufacturing process for small mass-produced parts of complicated forms. The field of application of the MIM technology is at present being extended by identification
Hartwig, T. +3 more
core
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena +13 more
wiley +1 more source
Advances in BODIPY Derivatives for Antibacterial Phototherapy
Angewandte Chemie, EarlyView.This review systematically summarizes the design strategies and structure‐activity relationships of BODIPY‐based antibacterial phototherapy, covering molecular engineering of small‐molecule photosensitizers and nanoplatforms, bacterial targeting and carrier design, and discussing the challenges and future perspectives associated with clinical ...
Li Lv +9 more
wiley +2 more sources
, 2017 The paper is part of a wider research project which seeks to explore the nexus between statelessness and refugee-ness at global, national and individual level. The relationship between the two legal concepts has not received much attention.
Tucker, Jason
core
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 +2 more
wiley +1 more source
Translation and Cross‐Cultural Adaptation of the Chronic Rhinosinusitis Control Test for Global Use
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Introduction The Chronic Rhinosinusitis Control Test (CRCT) is a patient‐reported outcome measure (PROM) written in English that is psychometrically validated to measure chronic rhinosinusitis control. Because the availability of translated PROMs is a driver of data equity—collection of data that is fair and generally representative—our ...
Hye K. Pae +52 more
wiley +1 more source
Trap-assisted tunnelling current in MIM structures
Open Physics, 2011 Racko Juraj +8 more
doaj +1 more source
Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy
Annals of Neurology, EarlyView.Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos +46 more
wiley +1 more source