Results 131 to 140 of about 13,529 (354)

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

Changes in spectra of cultivated and gathered plants in the Bronze Age

Archeologické Rozhledy
The Bronze Age (BA) in Central Europe witnessed significant transformations in various aspects of human activities. This study focuses on changes in subsistence strategies during the BA, represented by the assortment of edible plants.
Adéla Pokorná, Petr Kočár, Tereza Šálková   +2 more
doaj   +1 more source

Were burnt moulds derived from prehistoric copper production activities? [PDF]

, 2007
Burnt mounds and copper arrived on the scene in the British Isles at about the same time, at the beginning of the Neolithic to Bronze Age transition in the mid-3(^rd) millennium BC.
Thelin, Virginia H.
core  

Biomolecular evidence for changing millet reliance in Late Bronze Age central Germany

Scientific Reports
The Bronze Age of Central Europe was a period of major social, economic, political and ideological change. The arrival of millet is often seen as part of wider Bronze Age connectivity, yet understanding of the subsistence regimes underpinning this ...
Eleftheria Orfanou, Barbara Zach, A. Rohrlach, Florian Schneider, Enrico Paust, Mary Lucas, Taylor Hermes, Jana Ilgner, Erin Scott, P. Ettel, W. Haak, Robert N. Spengler, Patrick Roberts   +12 more
semanticscholar   +1 more source

Dental Paleopathological Features of the Bronze Age Population of the Sal-Manych Steppes

Нижневолжский археологический вестник
The paper presents the results of a dental pathology study of the Sal-Manych steppes’ population during the stages of the Bronze Age in chronological dynamics.
Elena A. Vagner-Sapukhina
doaj   +1 more source

The role of terracotta figures and figurines in Mycenaean cult [PDF]

, 2001
Since the time of Schliemann, Bronze Age scholars, while acknowledging the significance of figurines to Mycenaean cult, have not fully understood their function.
Richardson, Christine Mary
core  

Yassıtepe Hoyuk in the Middle Bronze Age

, 2023
"Orta Tunç Çağı'nda Yassıtepe Höyüğü" başlıklı tez çalışmasında, Yassıtepe Höyüğü Orta Tunç Çağı verilerine dayanarak, MÖ 2. binyılın ilk çeyreğinde Batı Anadolu'daki kültürel süreç araştırılmıştır.
Erdem, Mehmet Akif
core  

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

Bronze Age settlement dynamics in a Central European river catchment—The Weiße Elster river (Central Germany)

Frontiers in Environmental Archaeology
The paper discusses the potentials and challenges of geoarchaeological research into long-term prehistoric settlement dynamics. As an example, the study employs a dataset of 367 Bronze Age sites from the Weiße Elster river catchment in Central Germany ...
Jan Johannes Miera, Jan Johannes Miera
doaj   +1 more source