Results 171 to 180 of about 152,678 (256)

Epidemiological Profile of Uropathogenic Extended-Spectrum Beta-Lactamase-Producing Enterobacteriaceae. [PDF]

Interdiscip Perspect Infect Dis
Yassara S, Jaouhar S, Benyahia K, Sbiti M, Bekhti K.   +4 more
europepmc   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Comparative Operational Performance of Baited Logs, Lure Traps, and Flight-Intercept Traps in a Province-Scale Surveillance Program for Pine Wood-Boring Beetles in Yunnan, Southwestern China. [PDF]

Insects
Liu J, Jiang Q, He S, Wu Z, Wu J, Ping T, Liu Y.   +6 more
europepmc   +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

A Novel Renal Manifestation in <i>GLIS3</i>-Related Disorder in a Pediatric Patient With Cystic Nephroma. [PDF]

J Med Cases
Alharbi I, Alharbi DK, Abdelrahim R, Alzahrani BF.   +3 more
europepmc   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Spectrum of Non-SARS-CoV-2 Respiratory Viruses Among Symptomatic Post-COVID Adults in a North Indian Tertiary Care Center: A 2022 Surveillance Study. [PDF]

Cureus
Roy M, Sarkar S, Sharma V, Bora I, Mohindra R, Padhy S, Sapra M, Mohi GK, Ratho RK.   +8 more
europepmc   +1 more source

Owning Home, Finding Belonging: Relational Meanings of Homeownership for Migrant Healthcare Workers in Australia

Australian Journal of Social Issues, EarlyView.
ABSTRACT Migrant healthcare workers in Australia find themselves at the centre of three intersecting concerns, often presented as ‘crises’ in contemporary discourse: the ‘care crisis’, the ‘housing crisis’ and the ‘migration crisis.’ Yet their own perspectives on these issues are rarely foregrounded. This paper explores the role of homeownership in the
Leah Williams Veazey
wiley   +1 more source

Possible alignment of the EU BSE surveillance with the new WOAH provisions. [PDF]

EFSA J
EFSA Panel on Animal Health and Welfare (AHAW), Nielsen SS, Alvarez J, Boklund A, Dippel S, Dórea F, Figuerola J, Herskin MS, Michel V, Miranda Chueca MA, Nannoni E, Riber AB, Stahl K, Stegeman JA, Thulke HH, Tuyttens F, Winckler C, Arnold M, Ducrot C, Griffin J, Ru G, Simmons M, Ashe S, Pelaez AO, Kryemadhi K, Nonno R.   +25 more
europepmc   +1 more source