Results 201 to 210 of about 12,237 (267)

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

Sex-Based Differences in Mitral Annular Disjunction Severity and Arrhythmic Risk in Mitral Valve Prolapse. [PDF]

J Am Soc Echocardiogr
Cristin L, Tastet L, Jhawar R, Rich AB, Tang JJ, Bibby D, Fang Q, Arya F, Delling FN.   +8 more
europepmc   +1 more source

‘The Other Parent’: A Critical Policy Analysis of Fatherhood Discourses in the Australian Government's Paid Parental Leave Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT The Australian paid parental leave (PPL) government scheme aims to support working parents through financial assistance and the promotion of gender equality in caregiving responsibilities. However, the scheme's implementation has been critiqued for its gendered design, which marginalises fathers and reinforces traditional gender roles.
Lily Lewington, Bernadette Sebar, Jessica Lee   +2 more
wiley   +1 more source

Mitral annular disjunction and mitral valve prolapse: long-term risk of ventricular arrhythmias after surgery. [PDF]

Eur Heart J
Lodin K, Da Silva CO, Wang Gottlieb A, Bulatovic I, Rück A, George I, Cohen DJ, Braunschweig F, Svenarud P, Eriksson MJ, Haugaa KH, Dalén M, Shahim B.   +12 more
europepmc   +1 more source

The Politics of Framing the Student Problem: Inquiries Into Australian Civics Education, 2006–2024

Australian Journal of Social Issues, EarlyView.
ABSTRACT Recurring debates about civics, the kinds of history that should, and should not, be taught in school, and ‘standards debates’ about the ‘basics’ typically follow on the heels of recurring moral panics about the ‘declining’ state of ‘our’ education system.
Patrick O'Keeffe, Judith Bessant, Madeline Drake   +2 more
wiley   +1 more source

Cinematic Rendering Using Photon Counting CT Angiography of a Repaired Complex Aortic Dissection with Type IIIa Endoleak. [PDF]

Methodist Debakey Cardiovasc J
Forouzannia SA, Umair M.
europepmc   +1 more source

Implementing Indigenous Data Sovereignty in Australia: A Five‐Phase Framework for Indigenous Data Governance

Australian Journal of Social Issues, EarlyView.
ABSTRACT This article presents the development of a five‐phase Indigenous Data Governance (IDGov) Framework in Australia, focusing on partnerships between the Aboriginal Community Controlled Health Organisation (ACCHO) sector and non‐Indigenous health entities.
Jacob Prehn, Michael A. Guerzoni, Maggie Walter, Gawaian Bodkin‐Andrews, Bobby Maher   +4 more
wiley   +1 more source

Arrhythmic mitral annular disjunction or not arrhythmic mitral annular disjunction: that is the problem? [PDF]

Eur Heart J Case Rep
Cecere A, Perazzolo Marra M.
europepmc   +1 more source

Surgical treatment of a combined split cord malformation and spinal cord lipoma: illustrative case. [PDF]

J Neurosurg Case Lessons
Baumgartner ME, Wozny TA, Alan N, Gupta N.   +3 more
europepmc   +1 more source

Disjunct adverbs: a scale of disjunctiveness

, 1997
openaire   +1 more source