Results 241 to 250 of about 430,675 (304)

Comparison of ESKAPE Pathogen Levels in Wastewater and Receiving Water Bodies Using Agar-Based Enumeration and Real-Time PCR. [PDF]

Curr Microbiol
Mabeo OR, Tsholo K, Bezuidenhout CC, Molale-Tom LG.   +3 more
europepmc   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Schizothoracinae in Plateau River Networks: Drainage History, Polyploid Genome Evolution, Multi-Omics Evidence Chains, and Conservation Units. [PDF]

Animals (Basel)
Cao Y, Wang N, Hu Q, Zhu X.
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

Segmentation and regional analysis: labor typologies and geographic inequality in Antofagasta and La Araucanía, Chile. [PDF]

Front Sociol
Blanco O, Julián-Véjar D, Osorio-Rauld A.   +2 more
europepmc   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source

Governance Challenges of Smallholder Agricultural Carbon Projects and the Potential of Digital Tools: Insights from Kenya. [PDF]

Environ Manage
Mantey V, Birner R, Birkenberg A, Bosch C, Yameogo VG, Mburu J.   +5 more
europepmc   +1 more source

Strengthening Treaty Understanding: The Role of Education in Building Durable Indigenous–State Agreements

Australian Journal of Social Issues, EarlyView.
ABSTRACT Education is a central mechanism for ensuring that Indigenous–State treaties are understood, supported and endure through political change. Public knowledge shapes the negotiation, acceptance, implementation and long‐term stability of agreements. In Australia, however, treaty knowledge remains fragmented.
Jacob Prehn, Harry Hobbs, Jessica Horton
wiley   +1 more source