Results 131 to 140 of about 754,352 (360)

Modern Obstetrics and the Nurse [PDF]

open access: bronze, 1957
Frederick W. Goodrich
openalex   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods   +16 more
wiley   +1 more source

Editorial: Saving mothers and babies for the new world

open access: yesFrontiers in Surgery, 2023
Azanna Ahmad Kamar   +5 more
doaj   +1 more source

Conference Proceedings: Select Abstracts Presented at the 2024 Advocate Aurora Scientific Day

open access: yesJournal of Patient-Centered Research and Reviews
This abstract supplement includes findings presented through oral or poster presentations at the 50th annual Scientific Day event held on May 22, 2024.
Advocate Aurora Scientific Day
doaj   +1 more source

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher   +6 more
wiley   +1 more source

Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter   +6 more
wiley   +1 more source

Maternal Care [PDF]

open access: yes, 2001
This is the edited transcript of a Witness Seminar held at the Wellcome Institute for the History of Medicine, London, on 6 June 2000. First published by the Wellcome Trust Centre for the History of Medicine at UCL, 2001.©The Trustee of the Wellcome ...
Christie, DA, Tansey, EM
core  

Down Syndrome in Maternity Care: Mothers' Experiences of Prenatal Screening

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal screening for Down syndrome (DS) is offered to expectant parents receiving antenatal care in many countries, with an emphasis on providing parents with the opportunity to make informed choices about their pregnancy. We examined experiences of prenatal screening among mothers of children with DS living in England, Scotland, or Wales ...
Tamar Rutter   +5 more
wiley   +1 more source

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