Results 131 to 140 of about 145,893 (342)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa   +7 more
wiley   +1 more source

Orthognathic Surgical Outcomes in Patients With and Without Craniofacial Anomalies [PDF]

open access: yes, 2018
Purpose The objective of this study is to examine hospitalization outcomes after orthognathic surgery. This study tests the hypothesis that patients with craniofacial anomalies have higher billed hospital charges, longer lengths of stay, and increased ...
Allareddy, Veerasathpurush   +3 more
core   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear   +7 more
wiley   +1 more source

Prenatal vitamin D and enamel hypoplasia in human primary maxillary central incisors: A pilot study

open access: green, 2016
Susan G. Reed   +8 more
openalex   +2 more sources

Variability of the medullary arcuate nucleus in humans [PDF]

open access: yes, 2018
Ferrero, S   +3 more
core   +1 more source

Fetal Diagnosis of Hypoplastic Left Heart Syndrome With Restrictive Atrial Septum—Atrial Septal Morphology, Associated Lung Disease and Outcomes

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Fetuses with hypoplastic left heart syndrome (HLHS) and restrictive/intact atrial septum (RAS) have high mortality, partly due to pulmonary lymphangiectasia (PL). This study aimed to characterize atrial septal morphology in fetuses with HLHS and RAS and evaluate the impact of fetal intervention on PL and outcomes.
Sofie Dannesbo   +9 more
wiley   +1 more source

A 23‐year‐old patient with bilateral hypoplastic thumbs and toes: A case report

open access: yesClinical Case Reports
Key Clinical Message However, it is noteworthy that certain patients with minor functional limitations in their hand may have experienced undiagnosed thumb hypoplasia during their childhood years.
Suaad Hamsho   +4 more
doaj   +1 more source

PORCNmutations in focal dermal hypoplasia: coping with lethality [PDF]

open access: bronze, 2009
Dorothea Bornholdt   +33 more
openalex   +1 more source

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