Results 171 to 180 of about 99,866 (311)

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi   +20 more
wiley   +1 more source

UKNP01 NOTE: OBS. TEMPORARILY DISCONTINUED/OBS. TEMPORAIREMENT SUSPENDUES ; available from VNKT(KATHMANDU) at 00,12 .

open access: yes
UKNP01 - NOTE: OBS. TEMPORARILY DISCONTINUED/OBS. TEMPORAIREMENT SUSPENDUES. GTS Priority level: 2. Included stations: (44454, Kathmandu airport). Format: FM 35-X EXT.(Refer to WMO No.306 - Manual on Codes).

core  

Prenatal Detection of Arthrogryposis Multiplex Congenita, Present State and Future Perspectives

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of conditions characterized by congenital contractures in at least two different body regions. Despite increasingly widespread prenatal ultrasound screening, prenatal detection rates for AMC remain disappointingly low, with fewer than half of affected fetuses diagnosed before ...
Arda Arduç   +14 more
wiley   +1 more source

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy   +21 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen   +13 more
wiley   +1 more source

Revisiting the Evidence Underlying Dietary Recommendations on Saturated Fats and Cardiovascular Disease: A Narrative Synthesis of Systematic Reviews and Meta-Analyses. [PDF]

open access: yesAdv Nutr
Mansfeldt JM   +12 more
europepmc   +1 more source

Hidden in the Labour Market: An Intersectional Latent Class Analysis of Discouraged Workers in Australia

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This study employs an intersectionality‐informed latent class analysis (LCA) to examine the hidden diversity of discouraged workers in Australia. Drawing on nationally representative data from the Household, Income and Labour Dynamics in Australia Survey, we identified six empirically distinct subgroups defined by intersecting demographic and ...
Sora Lee, Woojin Kang
wiley   +1 more source

Residual Atherosclerotic Cardiovascular Disease Risk in Statin Users: A Systematic Review and Meta-Analysis. [PDF]

open access: yesJ Am Heart Assoc
Watanabe AH   +8 more
europepmc   +1 more source

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