Results 131 to 140 of about 24,010 (288)

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 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

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Evidence-based opportunities to address pandemic drivers via the Pandemic Agreement: lessons from the Framework Convention on Tobacco Control. [PDF]

BMJ Glob Health
Ferdowsian H, Halabi S.
europepmc   +1 more source

The Insistence of Blackness and the Persistence of Antiblackness in Ireland

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper positions Ireland as a critical site for examining the insistence of blackness and an antiblackness created and sustained through Irish ethnonationalist imaginaries and exclusionary processes. Drawing on connected sociologies and Irish Black Studies, this enquiry argues that antiblackness in Ireland operates as a generational force,
Philomena Mullen
wiley   +1 more source

Congressman Henry M. Jackson addressing the Pacific Northwest Retail Jewelers Convention at the Davenport Hotel in Spokane, Washington, March 1951

, 1951
Note filed with image: March 1951. HMJ. Addressing the Pacific Northwest Jewelers Convention. Spokane, Washington.

core  

‘Turkeys Cannot Vote for Christmas’: Why Epistemic Disobedience in an Anti‐Black World Matters

Australian Journal of Social Issues, EarlyView.
ABSTRACT Never in the history of global coloniality has the idea of epistemic disobedience been as important as in the 21st century. This is not only because the struggle for decolonisation has shifted from physical confrontation between the coloniser and the colonised into a battle of ideas but also because the former has deployed the idea of ...
Morgan Ndlovu
wiley   +1 more source

Facet‐Dependent Water Inhibition of Alkanol Dehydration on TiO2 via Distinct Water–Alkanol Complexes

Angewandte Chemie, EarlyView.
Water inhibits alkanol dehydration on TiO2 through facet‐dependent manners via distinct IPA‐water complexes. On TiO2(001), water forms a strongly hydrogen‐bonded isopropoxide–H2O complex that readily dominates the surface and substantially elevates the activation barrier, whereas on TiO2(101), water weakly hydrogen‐bonds to molecular IPA, resulting in ...
Wenda Hu, Haiting Cai, Anthony Savoy, Jinshu Tian, Sungmin Kim, Fan Lin, Junrui Li, Hao Xu, Yiqing Wu, Zihao Zhang, Nicholas Jaegers, Huamin Wang, Feng Gao, Jianzhi Hu, Yong Wang   +14 more
wiley   +2 more sources

Washington State Association of U.A Plumbers and Pipefitters (WSA) 63rd Convention in Blaine - 1987

, 1987
\ » * • 63RD CONVENTION MINUTES SPETEMBER 17 AND 18, 1987 THE INN AT SEMIAHMOO BLAINE, WASHINGTON President Sexton called the meeting to order at 9:10 a.m.
United Association of Journeymen and Apprentices of the Plumbing and Pipe Fitting Industry. Washington State Association
core  

‘We Are Australia’: Unpacking Aboriginal and Torres Strait Islander People's Understandings and Experiences of Australian Identity

Australian Journal of Social Issues, EarlyView.
ABSTRACT Aboriginal and Torres Strait Islander people are the oldest living custodians in the world. However, Australian identity has been purposefully established to exclude Aboriginal and Torres Strait Islander people, contributing to systemic oppression and harmful consequences. Understanding the perspectives and experiences of Aboriginal and Torres
Jack Farrugia, Jonathan Bullen
wiley   +1 more source