Results 111 to 120 of about 119,898,357 (301)

Literature review of issues related to work-life balance, workplace culture and maternity/childcare issues [PDF]

open access: yes, 2006
This literature review seeks to outline, analyse and synthesise research on the three related topics of work-life balance, workplace culture, and maternity/childcare issues.
Redmond, Jennifer   +2 more
core  

Validation of thoracic impedance cardiography by echocardiography in healthy late pregnancy

open access: yes, 2015
BACKGROUND: Assessment of stroke volume (SV) is often necessary in clinical and research settings. The clinically established method for SV assessment in pregnancy is echocardiography, but given its limitations, it is not always an appropriate ...
Mitchell, Edwin   +8 more
core   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto   +5 more
wiley   +1 more source

Concealed pregnancy: a case-study approach from an Irish setting

open access: yes, 2006
This study arose out of interested and concerned observations of social work and crisis pregnancy counselling and support staff attached to the antenatal and maternity departments of an Irish rural-based general hospital.
Conlon, Catherine
core  

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer   +4 more
wiley   +1 more source

Use of Oral Agents and/or Insulin in the Treatment of Diabetes during Pregnancy: An Examination of Outcomes in Pregestational versus Gestational Diabetics

open access: yes, 2020
The management of diabetes in pregnancy varies depending on whether the condition was first diagnosed during pregnancy (gestational diabetes) or was diagnosed before pregnancy (pregestational diabetes).
Samuel Prien   +6 more
core  

Maternal Factors Modifying the Link Between Genetic Risk for Autism and Developmental Milestones

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Although common genetic liability—quantified through polygenic risk scores (PRS)—accounts for substantial variance in autism spectrum disorder (ASD) liability, how prenatal environmental exposures interact with genetic predisposition to shape developmental outcomes remains poorly understood. Using the data from Autism Genetic Resource Exchange
Liliana D'Alesio   +4 more
wiley   +1 more source

Literature review on provision of appropriate and accessible support to people with an intellectual disability who are experiencing crisis pregnancy

open access: yes, 2011
The Crisis Pregnancy Agency [2] and the National Disability Authority commissioned this systematic review of Irish and international literature to identify international models of good practice regarding crisis pregnancy counselling and support ...
O'Connor, Joan
core  

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen   +5 more
wiley   +1 more source

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