Results 71 to 80 of about 7,787 (264)

Helping financially under‐resourced unmarried mothers move forward and flourish: Feasibility findings from an innovative coaching‐centered place‐based initiative

American Journal of Community Psychology, EarlyView.
Abstract Longer‐duration, holistic, cohort‐based, coach‐led interventions may be particularly effective in promoting both economic health and emotional well‐being among unmarried mothers living in economically disadvantaged neighborhoods. Aligning with the 1999 Centers for Disease Control (CDC) framework for program evaluation, this study presents a ...
Jennifer Langhinrichsen‐Rohling, Sharon Watson, Mia Ersoff, Jayla Worsley, Brice Kroll, Jenna Hollenhead   +5 more
wiley   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Anthropomorphic figurines from early Bronze Age burial mounds in the Bug-Dnieper interfluves and the Dnieper area

Tyragetia, 2018
: Figurines of the early Bronze Age from burial mounds, including ones of the Serezliivka type, have specific morphological and stylistic features, which do not allow them to be associated with Trypillia or Usatovo cultures.
Natalia Burdo
doaj  

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Diverse dietary practices across the Early Bronze Age 'Kura-Araxes culture' in the South Caucasus. [PDF]

PLoS One, 2022
Manoukian N, Whelton HL, Dunne J, Badalyan R, Smith AT, Simonyan H, Rothman MS, Bobokhyan A, Hovsepyan R, Avetisyan P, Evershed RP, Pollard AM.   +11 more
europepmc   +1 more source

Bronze Age Mining Communities in the Semey and Pavlodar Irtysh region

Gumilyov Journal of History
The publication examines issues in the history of the study of archaeological cultures and the development of metallurgy in the Bronze Age. An important region for understanding the complexity and characteristics of these processes in Northern Eurasia is
S. Sakenov, S. Yarygin
doaj   +1 more source

Bioarchaeological investigations of the princely grave at Helmsdorf attesting to the violent death of an Early Bronze Age leader. [PDF]

Sci Rep, 2022
Nicklisch N, Ramsthaler F, Bunnefeld JH, Schulz G, Friedrich R, Alt KW, Meller H.   +6 more
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source