P873: Novel fetal phenotype for FRYL-related neurodevelopmental disorder with multiple anomalies

Pediatric surgery required improved ventilation and ability to tolerate conventional ventilator/CPAP prior to operation. Unfortunately, there was minimal improvement in respiratory status and the family ultimately desired compassionate extubation.

Authors

Institutions

Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.103242
Citations
1
Primary Topic
Connective tissue disorders research
Type
article
Field-Weighted Citation Impact
1.82
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

P873: Novel fetal phenotype for FRYL-related neurodevelopmental disorder with multiple anomalies

Nina Boe, Nimerta Sandhu, Krishna Singh, Noura Osman et al.
1 citations
Genetics in Medicine Open
Connective tissue disorders research
1.82
article

P873: Novel fetal phenotype for FRYL-related neurodevelopmental disorder with multiple anomalies

Nina Boe, Nimerta Sandhu, Krishna Singh, Noura Osman, Herman L. Hedriana
article en
1 citations

Abstract

Pediatric surgery required improved ventilation and ability to tolerate conventional ventilator/CPAP prior to operation. Unfortunately, there was minimal improvement in respiratory status and the family ultimately desired compassionate extubation.

Genetics in Medicine OpenVol. 3
University of California, Davis (US)
Zero hunger
Openalex Percentile: Top 18%
Connective tissue disorders research
1.82
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.